| Phenotype: | Melanoma, cutaneous malignant, susceptibility to, 10 |
|---|---|
| Dna Change: | c.809G>A |
| Protein Change: | p.Ser270Asn |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 10 |
| Transcript: | NM_015450.2 |
Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X, , , , Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT, Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.Nat. Genet.. 2014; 0(0):