SMN1 c.299C>G ;(p.A100G)

Variant ID: 5-70238210-C-G

NM_000344.3(SMN1):c.299C>G;(p.A100G)

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:

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Human Molecular Genetics
Wu, Xingxing X; Wang, Shu-Huei SH; Sun, Junjie J; Krainer, Adrian R AR; Hua, Yimin Y; Prior, Thomas W TW
Publication Date: 2017-07-15

Variant appearance in text: SMN1: A100G
PubMed Link: 28460014
Variant Present in the following documents:
  • Main text
View BVdb publication page