rs59190510

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs59190510(A;A)

Make rs59190510(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52516647

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs59190510
dbSNP (classic)	rs59190510
ClinGen	rs59190510
ebi	rs59190510
HLI	rs59190510
Exac	rs59190510
Gnomad	rs59190510
Varsome	rs59190510
LitVar	rs59190510
Map	rs59190510
PheGenI	rs59190510
Biobank	rs59190510
1000 genomes	rs59190510
hgdp	rs59190510
ensembl	rs59190510
geneview	rs59190510
scholar	rs59190510
google	rs59190510
pharmgkb	rs59190510
gwascentral	rs59190510
openSNP	rs59190510
23andMe	rs59190510
SNPshot	rs59190510
SNPdbe	rs59190510
MSV3d	rs59190510
GWAS Ctlg	rs59190510

Max Magnitude

0

ClinVar
Risk	rs59190510(A;A) rs59190510(T;T)
Alt	rs59190510(A;A) rs59190510(T;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 UniProtKB (protein)
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.