NF1 c.3211G>C ;(p.A1071P)

Variant ID: 17-29559104-G-C

NM_001042492.2(NF1):c.3211G>C;(p.A1071P)

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:

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Scientific Reports
Zhang, Jia J; Tong, Hanxing H; Fu, Xi'an X; Zhang, Yong Y; Liu, Jiangbo J; Cheng, Ruhong R; Liang, Jianying J; Peng, Jie J; Sun, Zhonghui Z; Liu, Hong H; Zhang, Furen F; Lu, Weiqi W; Li, Ming M; Yao, Zhirong Z
Publication Date: 2015-06-09

Variant appearance in text: NF1: 3211G>C; Ala1071Pro
PubMed Link: 26056819
Variant Present in the following documents:
  • Main text
  • srep11291.pdf
  • srep11291-s1.pdf
View BVdb publication page