NOTCH1 c.3976T>C ;(p.S1326P)

Variant ID: 9-139401017-A-G

NM_017617.3(NOTCH1):c.3976T>C;(p.S1326P)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Cancer Science
Tode, Naoki N; Kikuchi, Toshiaki T; Sakakibara, Tomohiro T; Hirano, Taizou T; Inoue, Akira A; Ohkouchi, Shinya S; Tamada, Tsutomu T; Okazaki, Tatsuma T; Koarai, Akira A; Sugiura, Hisatoshi H; Niihori, Tetsuya T; Aoki, Yoko Y; Nakayama, Keiko K; Matsumoto, Kunio K; Matsubara, Yoichi Y; Yamamoto, Masayuki M; Watanabe, Akira A; Nukiwa, Toshihiro T; Ichinose, Masakazu M
Publication Date: 2017-06

Variant appearance in text: NOTCH1: 3976T>C; Ser1326Pro
PubMed Link: 28294470
Variant Present in the following documents:
  • CAS-108-1263-s001.pdf
View BVdb publication page