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rs59190510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs59190510(A;A)
Make rs59190510(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52516647
GeneKRT5
is asnp
is mentioned by
dbSNPrs59190510
ebirs59190510
HLIrs59190510
Exacrs59190510
Varsomers59190510
Maprs59190510
PheGenIrs59190510
hapmaprs59190510
1000 genomesrs59190510
hgdprs59190510
ensemblrs59190510
gopubmedrs59190510
geneviewrs59190510
scholarrs59190510
googlers59190510
pharmgkbrs59190510
gwascentralrs59190510
openSNPrs59190510
23andMers59190510
23andMe allrs59190510
SNP Nexus

SNPshotrs59190510
SNPdbers59190510
MSV3drs59190510
GWAS Ctlgrs59190510
Max Magnitude0
ClinVar
Risk rs59190510(A,T;A,T)
Alt rs59190510(A,T;A,T)
Reference rs59190510(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided Epidermolysis bullosa herpetiformis
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma not provided Epidermolysis bullosa herpetiformis, Dowling-Meara
Reversed 1
HGVS NC_000012.11:g.52910431C>A; NC_000012.11:g.52910431C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015759.25, RCV000056566.1, RCV000020296.2, RCV000056565.1,


[PMID 9036937] Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.


[PMID 16098032] Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.


[PMID 16601668] Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.