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rs144422014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2 Probably benign, but possibly associated with hereditary pancreatitis
(G;G) 2 Probably benign, but possibly associated with hereditary pancreatitis
ReferenceGRCh38 38.1/141
Chromosome7
Position142750675
GenePRSS1
is asnp
is mentioned by
dbSNPrs144422014
ebirs144422014
HLIrs144422014
Exacrs144422014
Varsomers144422014
Maprs144422014
PheGenIrs144422014
hapmaprs144422014
1000 genomesrs144422014
hgdprs144422014
ensemblrs144422014
gopubmedrs144422014
geneviewrs144422014
scholarrs144422014
googlers144422014
pharmgkbrs144422014
gwascentralrs144422014
openSNPrs144422014
23andMers144422014
23andMe allrs144422014
SNP Nexus

SNPshotrs144422014
SNPdbers144422014
MSV3drs144422014
GWAS Ctlgrs144422014
Max Magnitude2

aka c.161A>G, p.Asn54Ser and N54S

Information about this variant is somewhat complex. The minor allele, rs144422014(G), is classified as pathogenic for hereditary pancreatitis in ClinVar, a condition associated with dominant or de novo mutations. However, the frequency of the minor allele is relatively high (~3% in ExAC), and, OMIM quotes a paper that concludes this N54S variant is itself functional, but due to gene conversion with a pseudogene it may be seen together with an actual pathogenic mutation nearby, rs111033566. [PMID 15776435OA-icon.png]


ClinVar
Risk rs144422014(G;G)
Alt rs144422014(G;G)
Reference rs144422014(A;A)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142458526A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012656.22,