CDKN2A
Gene name: cyclin-dependent kinase inhibitor 2AOMIM ID: 600160
Chromosome location: 9p21
Mutations
| Disease/Phenotype | Melanoma, cutaneous malignant, 2 |
|---|---|
| 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. |
Polymorphisms
| Disease/Phenotype | Diabetes mellitus, type 2 (T2DM), susceptibility to | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NT_008413.18 | ||||||||||
| DNA Change | g.22124094T>C | ||||||||||
| A.A. Change | |||||||||||
| Variation Type | substitution | ||||||||||
| Reference SNP | rs10811661 | ||||||||||
| Cases | 1193 T2D cases | ||||||||||
| Controls | 1055 normoglycaemic controls | ||||||||||
| Frequency |
| ||||||||||
| Comments | Polymorphism associated with type 2 diabetes in the Moroccan sample population | ||||||||||
| Reference | Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs. Diabetes Metab. 2012 Mar 29. |