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rs60831116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60831116(A;A)
Make rs60831116(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position41586781
GeneKRT14
is asnp
is mentioned by
dbSNPrs60831116
ebirs60831116
HLIrs60831116
Exacrs60831116
Varsomers60831116
Maprs60831116
PheGenIrs60831116
hapmaprs60831116
1000 genomesrs60831116
hgdprs60831116
ensemblrs60831116
gopubmedrs60831116
geneviewrs60831116
scholarrs60831116
googlers60831116
pharmgkbrs60831116
gwascentralrs60831116
openSNPrs60831116
23andMers60831116
23andMe allrs60831116
SNP Nexus

SNPshotrs60831116
SNPdbers60831116
MSV3drs60831116
GWAS Ctlgrs60831116
GMAF0.001837
Max Magnitude0
OMIM148066
Desc
Variant0016
Relatedalso


ClinVar
Risk rs60831116(A,T;A,T)
Alt rs60831116(A,T;A,T)
Reference rs60831116(C;C)
Significance Pathogenic
Disease Dermatopathia pigmentosa reticularis not provided
Variation info
Gene KRT14
CLNDBN Dermatopathia pigmentosa reticularis not provided
Reversed 1
HGVS NC_000017.10:g.39743033G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015731.25, RCV000056744.1,



DERMATOPATHIA PIGMENTOSA RETICULARIS

Studying a family from the United States with the diagnosis of dermatopathia pigmentosa reticularis (DPR; 125595), first reported by Heimer et al. (1992), Lugassy et al. (2006) demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X).