ATM c.5954C>T ;(p.T1985I)

Variant ID: 11-108183173-C-T

NM_000051.3(ATM):c.5954C>T;(p.T1985I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease.

British Journal Of Haematology
Egan, Jan B JB; Kortuem, K Martin KM; Kurdoglu, Ahmet A; Izatt, Tyler T; Aldrich, Jessica J; Reiman, Rebecca R; Phillips, Lori L; Baker, Angela A; Shi, Chang-Xin CX; Schmidt, Jessica J; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Stewart, A Keith AK
Publication Date: 2013-06

Variant appearance in text: ATM: T1985I
PubMed Link: 23480694
Variant Present in the following documents:
  • Main text
View BVdb publication page