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NM_000526.5(KRT14):c.815T>G (p.Met272Arg) AND Epidermolysis bullosa simplex, Koebner type

Significance: Pathogenic
ClinVar: RCV000015721

Variant: NM_000526.5(KRT14):c.815T>G (p.Met272Arg)

Type: Variant
Allele: NM_000526.5(KRT14):c.815T>G (p.Met272Arg) 29656
Gene:
Type: single nucleotide variant
Location: Chr17: 41583872 - assembly GRCh38
Chr17: 39740124 - assembly GRCh37
References: dbSNP: 61371557
OMIM: 148066.0007
UniProtKB: P02533#VAR_003841

Condition

Disease: Epidermolysis bullosa simplex, Koebner type

Citation

    Humphries et al. (1993) identified a met272-to-arg mutation in the K14 gene as the cause of the generalized simplex (Koebner) form of epidermolysis bullosa (131900) in an Irish family.
PMID:7682883