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rs60399023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60399023(C;T)
Make rs60399023(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586462
GeneKRT14
is asnp
is mentioned by
dbSNPrs60399023
ebirs60399023
HLIrs60399023
Exacrs60399023
Varsomers60399023
Maprs60399023
PheGenIrs60399023
hapmaprs60399023
1000 genomesrs60399023
hgdprs60399023
ensemblrs60399023
gopubmedrs60399023
geneviewrs60399023
scholarrs60399023
googlers60399023
pharmgkbrs60399023
gwascentralrs60399023
openSNPrs60399023
23andMers60399023
23andMe allrs60399023
SNP Nexus

SNPshotrs60399023
SNPdbers60399023
MSV3drs60399023
GWAS Ctlgrs60399023
Max Magnitude0
OMIM148066
Desc
Variant0002
Relatedalso


ClinVar
Risk rs60399023(G,T;G,T)
Alt rs60399023(G,T;G,T)
Reference rs60399023(C;C)
Significance Pathogenic
Disease Epidermolysis bullosa herpetiformis not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed 1
HGVS NC_000017.10:g.39742714G>A; NC_000017.10:g.39742714G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015716.22, RCV000056717.1, RCV000056716.1,



[PMID 1717157] Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.


[PMID 10583131] A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.


[PMID 11331879] A 'hot-spot' mutation alters the mechanical properties of keratin filament networks.