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NF1 c.1006T>A ;(p.W336R)
Variant ID: 17-29527557-T-A
NM_001042492.2(
NF1
):c.1006T>A;(p.W336R)
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:
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: 1006T>A
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
Plos One
Hernández-Imaz, Elisabete E; Martín, Yolanda Y; de Conti, Laura L; Melean, German G; Valero, Ana A; Baralle, Marco M; Hernández-Chico, Concepción C
Publication Date: 2015
Variant appearance in text: NF1: 1006T>A
PubMed Link:
26509978
Variant Present in the following documents:
Main text
pone.0141735.pdf
View BVdb publication page