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rs61126080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61126080(-;-)
Make rs61126080(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52515066
GeneKRT5
is asnp
is mentioned by
dbSNPrs61126080
ebirs61126080
HLIrs61126080
Exacrs61126080
Varsomers61126080
Maprs61126080
PheGenIrs61126080
hapmaprs61126080
1000 genomesrs61126080
hgdprs61126080
ensemblrs61126080
gopubmedrs61126080
geneviewrs61126080
scholarrs61126080
googlers61126080
pharmgkbrs61126080
gwascentralrs61126080
openSNPrs61126080
23andMers61126080
23andMe allrs61126080
SNP Nexus

SNPshotrs61126080
SNPdbers61126080
MSV3drs61126080
GWAS Ctlgrs61126080
Merged fromRs80356816
Max Magnitude0
ClinVar
Risk rs61126080(;)
Alt rs61126080(;)
Reference rs61126080(G;G)
Significance Pathogenic
Disease Epidermolysis bullosa simplex with migratory circinate erythema not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex with migratory circinate erythema not provided
Reversed 1
HGVS NC_000012.11:g.52908850delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015761.26, RCV000056578.1,


[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.