NF1 c.3646G>T ;(p.G1216C)

Variant ID: 17-29560169-G-T

NM_001042492.2(NF1):c.3646G>T;(p.G1216C)

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:

Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.

Journal Of Breast Cancer
Jeon, Ye Won YW; Kim, Ra Mi RM; Lim, Seung Taek ST; Choi, Hyun Joo HJ; Suh, Young Jin YJ
Publication Date: 2015-03

Variant appearance in text: NF1: 3646G>T
PubMed Link: 25834617
Variant Present in the following documents:
  • Main text
  • jbc-18-97.pdf
View BVdb publication page