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rs80356816

From SNPedia

Merged intors61126080
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356816(-;-)
Make rs80356816(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52515066
GeneKRT5
is asnp
is mentioned by
dbSNPrs80356816
ebirs80356816
HLIrs80356816
Exacrs80356816
Varsomers80356816
Maprs80356816
PheGenIrs80356816
hapmaprs80356816
1000 genomesrs80356816
hgdprs80356816
ensemblrs80356816
gopubmedrs80356816
geneviewrs80356816
scholarrs80356816
googlers80356816
pharmgkbrs80356816
gwascentralrs80356816
openSNPrs80356816
23andMers80356816
23andMe allrs80356816
SNP Nexus

SNPshotrs80356816
SNPdbers80356816
MSV3drs80356816
GWAS Ctlgrs80356816
StatusMerged into rs61126080
Max Magnitude0
OMIM148040
Desc
Variant0017
Relatedalso
ClinVar
Risk rs80356816(;)
Alt rs80356816(;)
Reference rs80356816(G;G)
Significance Pathogenic
Disease Epidermolysis Bullosa Simplex
Variation info
Gene KRT5
CLNDBN Epidermolysis Bullosa Simplex
Reversed 1
HGVS NC_000012.11:g.52908850delC
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000036026.1, SCV000036026.1, SCV000040663.1, SCV000040663.1,


[PMID 12925204] A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.


[PMID 15324323] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.