chr7:142750600:A>C Detail (hg38) (PRSS1, TRB)

Information

Genome

Assembly Position
hg19 chr7:142,458,451-142,458,451 View the variant detail on this assembly version.
hg38 chr7:142,750,600-142,750,600

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000311737.12:c.86A>C ENST00000311737.12:p.Asn29Thr
ENST00000486171.5:c.86A>C ENST00000486171.5:p.Asn29Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 276000 OMIM
HGNC 9475 HGNC
Ensembl ENSG00000204983 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31280037 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-27 criteria provided, multiple submitters, no conflicts Hereditary pancreatitis germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.268 Hereditary pancreatitis Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the catio... BeFree 10909845 Detail
0.268 Hereditary pancreatitis The majority of patients with hereditary pancreatitis express one of two mutatio... BeFree 12508340 Detail
0.003 Idiopathic chronic pancreatitis Ten patients were homozygous for N34S, SPINK1 mutations were most common in 'idi... BeFree 12120220 Detail
0.268 Hereditary pancreatitis Based on these findings, we revised the criteria for the diagnosis of HP; (1) re... BeFree 15028953 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
0.174 Pancreatitis, Chronic Based on these findings, we revised the criteria for the diagnosis of HP; (1) re... BeFree 15028953 Detail
0.174 Pancreatitis, Chronic Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the... BeFree 22699143 Detail
0.268 Hereditary pancreatitis The most common mutations in hereditary pancreatitis are R122H, N29I and A16V bu... BeFree 16358943 Detail
0.268 Hereditary pancreatitis Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations... BeFree 23474566 Detail
0.003 Hyperparathyroidism, Primary These individuals and 50 patients with pHPT without pancreatitis were analyzed f... BeFree 18076731 Detail
0.268 Hereditary pancreatitis Hereditary pancreatitis (HP) is usually caused by mutations in the cationic tryp... BeFree 11788572 Detail
0.268 Hereditary pancreatitis Finally, cathepsin B- catalyzed activation of recombinant human cationic trypsin... BeFree 11932257 Detail
0.220 Pancreatitis, Chronic Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the... BeFree 22699143 Detail
0.414 pancreatitis Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1... BeFree 21952138 Detail
0.268 Hereditary pancreatitis We believe that interaction between the novel IVS3+172 intronic variant and p.N2... BeFree 21952138 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) AND Hereditary pancreatitis ClinVar Detail
Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene... DisGeNET Detail
The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) i... DisGeNET Detail
Ten patients were homozygous for N34S, SPINK1 mutations were most common in 'idiopathic' CP, whereas... DisGeNET Detail
Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chr... 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
Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chr... DisGeNET Detail
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexi... DisGeNET Detail
The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have... DisGeNET Detail
Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations resulting in high p... DisGeNET Detail
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the ... DisGeNET Detail
Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene... DisGeNET Detail
Finally, cathepsin B- catalyzed activation of recombinant human cationic trypsinogen with hereditary... DisGeNET Detail
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexi... DisGeNET Detail
Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated ... DisGeNET Detail
We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the P... 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
rs111033566 dbSNP
Genome
hg38
Position
chr7:142,750,600-142,750,600
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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