NF1 c.1394G>A ;(p.S465N)

Variant ID: 17-29541470-G-A

NM_001042492.2(NF1):c.1394G>A;(p.S465N)

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: 1394G>A; S465N
PubMed Link: 31717729
Variant Present in the following documents:
  • Main text
  • genes-10-00847.pdf
View BVdb publication page