chr5:147828115:T>C Detail (hg38) (SPINK1)

Information

Genome

Assembly Position
hg19 chr5:147,207,678-147,207,678 View the variant detail on this assembly version.
hg38 chr5:147,828,115-147,828,115

HGVS

Type Transcript Protein
RefSeq NM_003122.4:c.101A>G NP_003113.2:p.Asn34Ser
Ensemble ENST00000296695.10:c.101A>G ENST00000296695.10:p.Asn34Ser
ENST00000510027.2:c.101A>G ENST00000510027.2:p.Asn34Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.006
ToMMo:0.005
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; association; risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 167790 OMIM
HGNC 11244 HGNC
Ensembl ENSG00000164266 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23179518 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2002-10-01 no assertion criteria provided Pancreatitis, chronic, susceptibility to germline Detail
Conflicting interpretations of pathogenicity; association; risk factor 2024-01-31 criteria provided, conflicting interpretations Hereditary pancreatitis germline inherited unknown Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations not provided germline Detail
Likely benign criteria provided, single submitter Finnish congenital nephrotic syndrome germline Detail
Pathogenic Likely pathogenic 2022-09-01 criteria provided, multiple submitters, no conflicts Tropical pancreatitis germline unknown Detail
Likely risk allele no assertion criteria provided pancreatitis unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.018 Pancreatitis, Alcoholic This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do ... BeFree 16187186 Detail
0.021 Pancreatitis, Alcoholic This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do ... BeFree 16187186 Detail
0.220 Pancreatitis, Chronic Investigation of the SPINK1 N34S mutation in Romanian patients with alcoholic ch... BeFree 19565042 Detail
0.007 Idiopathic chronic pancreatitis The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idio... BeFree 11950815 Detail
0.010 pancreatic carcinoma The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A... BeFree 14560157 Detail
0.220 Pancreatitis, Chronic The two individuals with the N34S mutation did not have any signs of chronic pan... BeFree 17613931 Detail
<0.001 adrenoleukodystrophy One ACP patient (2.2%) was found to carry the most common mutation (N34S) of SPI... BeFree 12939655 Detail
0.007 acute pancreatitis Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especia... BeFree 26100556 Detail
<0.001 Idiopathic bronchiectasis Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were fou... BeFree 24451227 Detail
0.245 Hereditary pancreatitis Four patients had hereditary pancreatitis (three with confirmed N34S mutation in... BeFree 24210198 Detail
0.220 Pancreatitis, Chronic Limited contribution of the SPINK1 N34S mutation to the risk and severity of alc... BeFree 12822871 Detail
0.220 Pancreatitis, Chronic Research has focussed on the SPINK1-N34S-mutation, which is closely associated w... BeFree 15567996 Detail
0.007 Idiopathic chronic pancreatitis Cases of SPINK1 mutations, especially N34S, have been reported in a subset of pa... BeFree 14641934 Detail
<0.001 Chronic cholecystitis The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chron... BeFree 14688470 Detail
0.007 acute pancreatitis The p.N34S mutation in SPINK1 gene was found more frequently in patients with AP... BeFree 24844923 Detail
0.011 Malignant neoplasm of pancreas The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A... BeFree 14560157 Detail
0.120 Pancreatitis, chronic, susceptibility to NA CLINVAR Detail
0.220 Pancreatitis, Chronic Recent studies have shown an association between the N34S mutation in the serine... BeFree 15980664 Detail
0.001 Acute recurrent pancreatitis PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP... BeFree 16954950 Detail
0.002 Adenocarcinoma of pancreas We conclude that the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polym... BeFree 14688470 Detail
0.220 Pancreatitis, Chronic PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP... BeFree 16954950 Detail
0.001 Fibrocalculous pancreatic diabetes SPINK1 N34S mutations appeared in 1 of 76 controls (1.3%), 12 of 22 patients wit... BeFree 12360464 Detail
0.007 Malignant neoplasm of pancreas Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreat... BeFree 15084977 Detail
0.001 Acute recurrent pancreatitis We did not find a statistically significant association of ARP or CP with the N3... BeFree 19844201 Detail
0.003 Pancreatic Diseases In Bangladesh, the SPINK1 N34S mutation increases the risk of several forms of p... BeFree 12360464 Detail
0.588 Hypocalciuric hypercalcemia, familial, type 1 In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (... BeFree 16497624 Detail
0.220 Pancreatitis, Chronic The results demonstrated that 3 of 8 patients with CPPCa (37.5%) had the SPINK 1... BeFree 19896093 Detail
<0.001 Pancreatic disorders (not diabetes) In idiopathic pancreatitis a significant increase was found in mutation frequenc... BeFree 12452372 Detail
0.003 exocrine pancreatic insufficiency [The prevalence of CP, especially in women, increased over time. Genetic causes ... GAD 20108119 Detail
<0.001 Precancerous Conditions Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreat... BeFree 15084977 Detail
0.220 Pancreatitis, Chronic The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chron... BeFree 14688470 Detail
0.007 Idiopathic chronic pancreatitis Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were fou... BeFree 24451227 Detail
0.220 Pancreatitis, Chronic [We wanted to describe etiologies of today and identify patients with genetic di... GAD 20108119 Detail
0.003 pancreatitis idiopathic The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute ... BeFree 21375584 Detail
0.003 pancreatitis idiopathic In idiopathic pancreatitis a significant increase was found in mutation frequenc... BeFree 12452372 Detail
0.021 Pancreatitis, Alcoholic [The prevalence of CP, especially in women, increased over time. Genetic causes ... GAD 20108119 Detail
0.414 pancreatitis Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutatio... BeFree 18076731 Detail
0.007 acute pancreatitis Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis... BeFree 22228370 Detail
0.220 Pancreatitis, Chronic Pathways to injury in chronic pancreatitis: decoding the role of the high-risk S... BeFree 18414673 Detail
0.220 Pancreatitis, Chronic Recently, a point mutation (N34S) in the gene encoding the serine protease inhib... BeFree 12014716 Detail
0.238 pancreatitis Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the S... BeFree 18076731 Detail
0.220 Pancreatitis, Chronic Two types of single-point mutation in the PSTI gene were observed in one patient... BeFree 11578065 Detail
0.220 Pancreatitis, Chronic Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis... BeFree 15764155 Detail
0.007 Malignant neoplasm of pancreas Patients with the N34S mutation presented with earlier symptom onset and more di... BeFree 17238043 Detail
0.245 Hereditary pancreatitis Using recombinant normal sequence PSTI/tumor-associated trypsin inhibitor (TATI)... BeFree 23698120 Detail
0.220 Pancreatitis, Chronic Several studies have reported association of c.101A&gt;G (p.N34S) mutation in SP... BeFree 24844923 Detail
0.238 pancreatitis Mechanisms other than the conformational change of PSTI associated with amino-ac... BeFree 12483248 Detail
0.238 pancreatitis We tested the hypothesis that the pancreatitis-associated N34S mutation of SPINK... BeFree 15753612 Detail
0.007 acute pancreatitis The SPINK1 N34S variant is associated with acute pancreatitis. BeFree 18617776 Detail
0.220 Pancreatitis, Chronic The SPINK1 mutation N34S is associated to chronic pancreatitis of idiopathic, al... BeFree 12649567 Detail
0.003 pancreatic carcinoma The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A... BeFree 14560157 Detail
0.003 pancreatic carcinoma Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreat... BeFree 15084977 Detail
0.007 acute pancreatitis Patients bearing the N34S G allele exhibited a 10-fold increased risk of develop... BeFree 22699143 Detail
0.007 acute pancreatitis SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not ... BeFree 19888199 Detail
0.220 Pancreatitis, Chronic To test the hypothesis that calcium sensing receptor (CASR) polymorphisms are as... BeFree 18680227 Detail
0.220 Pancreatitis, Chronic Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to pa... BeFree 12187509 Detail
0.007 Malignant neoplasm of pancreas The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A... BeFree 14560157 Detail
0.220 Pancreatitis, Chronic Genetic testing showed homozygous SPINK1-N34S mutation, which is an established ... BeFree 15875176 Detail
0.005 pancreatitis idiopathic In idiopathic pancreatitis a significant increase was found in mutation frequenc... BeFree 12452372 Detail
<0.001 Pancreatic carcinoma, familial Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pan... BeFree 14688470 Detail
0.003 pancreatic carcinoma Patients with the N34S mutation presented with earlier symptom onset and more di... BeFree 17238043 Detail
0.485 TROPICAL CALCIFIC PANCREATITIS NA CLINVAR Detail
0.245 Hereditary pancreatitis Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) g... UNIPROT 10691414 Detail
0.238 pancreatitis The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute ... BeFree 21375584 Detail
0.238 pancreatitis We report a case of pancreatic cancer associated with chronic calcifying pancrea... BeFree 15084977 Detail
<0.001 Pancreatic Insufficiency The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute ... BeFree 21375584 Detail
<0.001 Adenocarcinoma of pancreas We conclude that the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polym... BeFree 14688470 Detail
<0.001 Pancreatic carcinoma, familial Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pan... BeFree 14688470 Detail
0.485 TROPICAL CALCIFIC PANCREATITIS SPINK1 N34S mutations appeared in 1 of 76 controls (1.3%), 12 of 22 patients wit... BeFree 12360464 Detail
0.485 TROPICAL CALCIFIC PANCREATITIS Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) g... UNIPROT 10691414 Detail
0.003 Hyperparathyroidism, Primary Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the S... BeFree 18076731 Detail
0.485 TROPICAL CALCIFIC PANCREATITIS As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to... BeFree 16492714 Detail
0.485 TROPICAL CALCIFIC PANCREATITIS Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S)... BeFree 19404200 Detail
0.220 Pancreatitis, Chronic Four patients had hereditary pancreatitis (three with confirmed N34S mutation in... BeFree 24210198 Detail
0.220 Pancreatitis, Chronic To our knowledge, this is the first reported case of chronic pancreatitis accomp... BeFree 15084977 Detail
0.220 Pancreatitis, Chronic The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis. BeFree 22751291 Detail
0.003 exocrine pancreatic insufficiency The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute ... BeFree 21375584 Detail
0.220 Pancreatitis, Chronic Two common haplotypes, c.101A&gt;G (p.N34S) and c.-215G&gt;A, and four intronic ... BeFree 21323990 Detail
<0.001 Acute recurrent pancreatitis PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP... BeFree 16954950 Detail
<0.001 TROPICAL CALCIFIC PANCREATITIS As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to... BeFree 16492714 Detail
<0.001 Acute recurrent pancreatitis PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP... BeFree 16954950 Detail
<0.001 Pancreatic disorders (not diabetes) In idiopathic pancreatitis a significant increase was found in mutation frequenc... BeFree 12452372 Detail
0.245 Hereditary pancreatitis NA CLINVAR Detail
0.268 Hereditary pancreatitis The R122H and N291 mutations of CT are the most common disease-associated mutati... BeFree 11866271 Detail
0.004 acute pancreatitis A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurre... BeFree 21303407 Detail
0.007 acute pancreatitis The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso... BeFree 21303407 Detail
0.414 pancreatitis Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and tw... BeFree 17148697 Detail
0.002 acute pancreatitis The study's objective was to assess the association between the PRSS1 R122H and ... BeFree 22699143 Detail
0.245 Hereditary pancreatitis The R122H and N291 mutations of CT are the most common disease-associated mutati... BeFree 11866271 Detail
0.174 Pancreatitis, Chronic Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the... BeFree 22699143 Detail
0.003 Hyperparathyroidism, Primary These individuals and 50 patients with pHPT without pancreatitis were analyzed f... BeFree 18076731 Detail
0.002 acute pancreatitis The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso... BeFree 21303407 Detail
0.220 Pancreatitis, Chronic Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the... BeFree 22699143 Detail
<0.001 acute pancreatitis The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso... BeFree 21303407 Detail
<0.001 acute pancreatitis A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurre... BeFree 21303407 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND Pancreatitis, chronic, susceptibility to ClinVar Detail
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND Hereditary pancreatitis ClinVar Detail
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND not provided ClinVar Detail
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND Finnish congenital nephrotic syndrome ClinVar Detail
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND Tropical pancreatitis ClinVar Detail
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) AND Pancreatitis ClinVar Detail
This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an importan... DisGeNET Detail
This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an importan... DisGeNET Detail
Investigation of the SPINK1 N34S mutation in Romanian patients with alcoholic chronic pancreatitis. ... DisGeNET Detail
The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancr... DisGeNET Detail
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in pat... DisGeNET Detail
The two individuals with the N34S mutation did not have any signs of chronic pancreatitis. DisGeNET Detail
One ACP patient (2.2%) was found to carry the most common mutation (N34S) of SPINK1 compared to none... DisGeNET Detail
Mutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing... DisGeNET Detail
Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were found in 6 patients: 4 ... DisGeNET Detail
Four patients had hereditary pancreatitis (three with confirmed N34S mutation in the SPINK1 gene), o... DisGeNET Detail
Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancr... DisGeNET Detail
Research has focussed on the SPINK1-N34S-mutation, which is closely associated with tropical, alcoho... DisGeNET Detail
Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopath... DisGeNET Detail
The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chronic pancreatitis, in ... DisGeNET Detail
The p.N34S mutation in SPINK1 gene was found more frequently in patients with AP in the Indian popul... DisGeNET Detail
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in pat... DisGeNET Detail
NA DisGeNET Detail
Recent studies have shown an association between the N34S mutation in the serine protease inhibitor ... DisGeNET Detail
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094)... DisGeNET Detail
We conclude that the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polymorphisms do not pred... DisGeNET Detail
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094)... DisGeNET Detail
SPINK1 N34S mutations appeared in 1 of 76 controls (1.3%), 12 of 22 patients with fibrocalculous pan... DisGeNET Detail
Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving ... DisGeNET Detail
We did not find a statistically significant association of ARP or CP with the N34S SPINK-1 gene muta... DisGeNET Detail
In Bangladesh, the SPINK1 N34S mutation increases the risk of several forms of pancreatic disease, i... DisGeNET Detail
In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR ge... DisGeNET Detail
The results demonstrated that 3 of 8 patients with CPPCa (37.5%) had the SPINK 1 gene N34S mutation. DisGeNET Detail
In idiopathic pancreatitis a significant increase was found in mutation frequency both in the CFTR g... DisGeNET Detail
[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or total... DisGeNET Detail
Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving ... DisGeNET Detail
The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chronic pancreatitis, in ... DisGeNET Detail
Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were found in 6 patients: 4 ... DisGeNET Detail
[We wanted to describe etiologies of today and identify patients with genetic disorders like heredit... DisGeNET Detail
The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatit... DisGeNET Detail
In idiopathic pancreatitis a significant increase was found in mutation frequency both in the CFTR g... DisGeNET Detail
[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or total... DisGeNET Detail
Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene... DisGeNET Detail
Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis? DisGeNET Detail
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype... DisGeNET Detail
Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (... DisGeNET Detail
Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibi... DisGeNET Detail
Two types of single-point mutation in the PSTI gene were observed in one patient with chronic pancre... DisGeNET Detail
Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cance... DisGeNET Detail
Patients with the N34S mutation presented with earlier symptom onset and more dilatation of the main... DisGeNET Detail
Using recombinant normal sequence PSTI/tumor-associated trypsin inhibitor (TATI), a variant associat... DisGeNET Detail
Several studies have reported association of c.101A&gt;G (p.N34S) mutation in SPINK1 gene with chron... DisGeNET Detail
Mechanisms other than the conformational change of PSTI associated with amino-acid substitution, suc... DisGeNET Detail
We tested the hypothesis that the pancreatitis-associated N34S mutation of SPINK1 is also a risk fac... DisGeNET Detail
The SPINK1 N34S variant is associated with acute pancreatitis. DisGeNET Detail
The SPINK1 mutation N34S is associated to chronic pancreatitis of idiopathic, alcoholic and tropic o... DisGeNET Detail
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in pat... DisGeNET Detail
Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving ... DisGeNET Detail
Patients bearing the N34S G allele exhibited a 10-fold increased risk of developing AP compared with... DisGeNET Detail
SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for th... DisGeNET Detail
To test the hypothesis that calcium sensing receptor (CASR) polymorphisms are associated with chroni... DisGeNET Detail
Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for ... DisGeNET Detail
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in pat... DisGeNET Detail
Genetic testing showed homozygous SPINK1-N34S mutation, which is an established risk factor for chro... DisGeNET Detail
In idiopathic pancreatitis a significant increase was found in mutation frequency both in the CFTR g... DisGeNET Detail
Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. DisGeNET Detail
Patients with the N34S mutation presented with earlier symptom onset and more dilatation of the main... DisGeNET Detail
NA DisGeNET Detail
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary an... DisGeNET Detail
The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatit... DisGeNET Detail
We report a case of pancreatic cancer associated with chronic calcifying pancreatitis in a patient w... DisGeNET Detail
The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatit... DisGeNET Detail
We conclude that the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polymorphisms do not pred... DisGeNET Detail
Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. DisGeNET Detail
SPINK1 N34S mutations appeared in 1 of 76 controls (1.3%), 12 of 22 patients with fibrocalculous pan... DisGeNET Detail
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary an... DisGeNET Detail
Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibi... DisGeNET Detail
As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier rol... DisGeNET Detail
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants. DisGeNET Detail
Four patients had hereditary pancreatitis (three with confirmed N34S mutation in the SPINK1 gene), o... DisGeNET Detail
To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic ... DisGeNET Detail
The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis. DisGeNET Detail
The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatit... DisGeNET Detail
Two common haplotypes, c.101A&gt;G (p.N34S) and c.-215G&gt;A, and four intronic alterations of the s... DisGeNET Detail
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094)... DisGeNET Detail
As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier rol... DisGeNET Detail
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094)... DisGeNET Detail
In idiopathic pancreatitis a significant increase was found in mutation frequency both in the CFTR g... DisGeNET Detail
NA DisGeNET Detail
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S ... DisGeNET Detail
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and heal... DisGeNET Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren... DisGeNET Detail
Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S an... DisGeNET Detail
The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 ... DisGeNET Detail
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S ... DisGeNET Detail
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexi... DisGeNET Detail
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the ... DisGeNET Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren... DisGeNET Detail
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexi... DisGeNET Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren... DisGeNET Detail
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and heal... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17107315 dbSNP
Genome
hg38
Position
chr5:147,828,115-147,828,115
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
74.89
Standard deviation of sample read depth (HGVD)
35.45
Number of reference allele (HGVD)
2406
Number of alternative allele (HGVD)
14
Allele Frequency (HGVD)
0.005785123966942148
Gene Symbol (HGVD)
SPINK1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs17107315
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0048
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
80
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8094
East Asian Allele Counts (ExAC)
31
East Asian Heterozygous Counts (ExAC)
31
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0038299975290338522
Chromosome Counts in All Race (ExAC)
111802
Allele Counts in All Race (ExAC)
1104
Heterozygous Counts in All Race (ExAC)
1086
Homozygous Counts in All Race (ExAC)
9
Allele Frequency in All Race (ExAC)
0.009874599738823993
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