SMN1 c.836G>C ;(p.G279A)

Variant ID: 5-70247769-G-C

NM_000344.3(SMN1):c.836G>C;(p.G279A)

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:

The survival motor neuron protein forms soluble glycine zipper oligomers.

Structure (London, England : 1993)
Martin, Renee R; Gupta, Kushol K; Ninan, Nisha S NS; Perry, Kay K; Van Duyne, Gregory D GD
Publication Date: 2012-11-07

Variant appearance in text: SMA: G279A
PubMed Link: 23022347
Variant Present in the following documents:
  • Main text
View BVdb publication page