PC c.384C>T ;(p.A128=)

Variant ID: 11-66638889-G-A

NM_001040716.1(PC):c.384C>T;(p.A128=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Journal Of Medical Genetics
Goldstein, Alisa M AM; Chan, May M; Harland, Mark M; Hayward, Nicholas K NK; Demenais, Florence F; Bishop, D Timothy DT; Azizi, Esther E; Bergman, Wilma W; Bianchi-Scarra, Giovanna G; Bruno, William W; Calista, Donato D; Albright, Lisa A Cannon LA; Chaudru, Valerie V; Chompret, Agnes A; Cuellar, Francisco F; Elder, David E DE; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Hogg, David D; Holland, Elizabeth A EA; Kanetsky, Peter A PA; Kefford, Richard F RF; Landi, Maria Teresa MT; Lang, Julie J; Leachman, Sancy A SA; MacKie, Rona M RM; Magnusson, Veronica V; Mann, Graham J GJ; Bishop, Julia Newton JN; Palmer, Jane M JM; Puig, Susana S; Puig-Butille, Joan A JA; Stark, Mitchell M; Tsao, Hensin H; Tucker, Margaret A MA; Whitaker, Linda L; Yakobson, Emanuel E; , ; ,
Publication Date: 2007-02

Variant appearance in text: PC: A128A
PubMed Link: 16905682
Variant Present in the following documents:
  • Main text
View BVdb publication page