NF1 c.4180A>C ;(p.S1394R)

Variant ID: 17-29585368-A-C

NM_001042492.2(NF1):c.4180A>C;(p.S1394R)

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:

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Genes
Yao, Ruen R; Yu, Tingting T; Xu, Yufei Y; Yu, Li L; Wang, Jiwen J; Wang, Xiumin X; Wang, Jian J; Shen, Yiping Y
Publication Date: 2019-10-26

Variant appearance in text: NF1: 4180A>C; N1394H
PubMed Link: 31717729
Variant Present in the following documents:
  • Main text
  • genes-10-00847.pdf
View BVdb publication page