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NF1 c.35C>T ;(p.A12V)
Variant ID: 17-29422362-C-T
NM_001042492.2(
NF1
):c.35C>T;(p.A12V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic mutation and biological pathway prediction based on whole slide images in breast carcinoma using deep learning.
Npj Precision Oncology
Qu, Hui H; Zhou, Mu M; Yan, Zhennan Z; Wang, He H; Rustgi, Vinod K VK; Zhang, Shaoting S; Gevaert, Olivier O; Metaxas, Dimitris N DN
Publication Date: 2021-09-23
Variant appearance in text: NF1: A12V
PubMed Link:
34556802
Variant Present in the following documents:
41698_2021_225_MOESM1_ESM.pdf
View BVdb publication page
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04
Variant appearance in text: NF1: 35C>T; Ala12Val
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page