Melanoma, cutaneous malignant, 2
OMIM:155601Mode of inheritance:Autosomal dominant
Disease classification:Neoplasms
Mutations
| Gene Symbol | CDKN2A |
|---|---|
| Reference transcript | NM_001195132.1 |
| DNA Change | c.176T>G |
| A.A. Change | p.Val59Gly |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Bressac-de Paillerets B.A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. Eur J Hum Genet. 2003 Apr;11(4):288-96. |