chr7:142751920:G>C Detail (hg38) (PRSS1, TRB)

Information

Genome

Assembly Position
hg19 chr7:142,459,771-142,459,771 View the variant detail on this assembly version.
hg38 chr7:142,751,920-142,751,920

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000311737.12:c.347G>C ENST00000311737.12:p.Arg116Pro
ENST00000486171.5:c.389G>C ENST00000486171.5:p.Arg130Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely 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 tgv31280319 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic no assertion criteria provided Hereditary pancreatitis inherited Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.268 Hereditary pancreatitis However, neither the R117H nor the N21L mutation in the cationic trypsinogen wer... BeFree 10653140 Detail
0.414 pancreatitis Lack of R117H mutation in the cationic trypsinogen gene in patients with tropica... BeFree 9788542 Detail
0.414 pancreatitis We identified three deleterious genetic changes in the three major pancreatitis ... BeFree 22572128 Detail
0.268 Hereditary pancreatitis Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen... BeFree 9557894 Detail
0.414 pancreatitis We recently identified a single R117H mutation in the cationic trypsinogen gene ... BeFree 9322498 Detail
0.268 Hereditary pancreatitis Three-point mutations (R117H, N211, A16V) within the cationic trypsinogen gene h... BeFree 11138965 Detail
0.268 Hereditary pancreatitis A family, in which 11 members had chronic pancreatitis, five had diabetes, and t... BeFree 10208958 Detail
0.268 Hereditary pancreatitis Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the catio... BeFree 10909845 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002769.5(PRSS1):c.347G>C (p.Arg116Pro) AND Hereditary pancreatitis ClinVar Detail
However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP fa... DisGeNET Detail
Lack of R117H mutation in the cationic trypsinogen gene in patients with tropical pancreatitis from ... DisGeNET Detail
We identified three deleterious genetic changes in the three major pancreatitis associated genes (PR... DisGeNET Detail
Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5... DisGeNET Detail
We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds ... DisGeNET Detail
Three-point mutations (R117H, N211, A16V) within the cationic trypsinogen gene have been identified ... DisGeNET Detail
A family, in which 11 members had chronic pancreatitis, five had diabetes, and two had pancreatic ca... DisGeNET Detail
Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene... 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
rs199769221 dbSNP
Genome
hg38
Position
chr7:142,751,920-142,751,920
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1587485515643106E-4
Chromosome Counts in All Race (ExAC)
120796
Allele Counts in All Race (ExAC)
15
Heterozygous Counts in All Race (ExAC)
15
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.2417629722838504E-4
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