SMN1 c.523T>G ;(p.S175A)

Variant ID: 5-70238593-T-G

NM_000344.3(SMN1):c.523T>G;(p.S175A)

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:

Mechanisms of Vascular Smooth Muscle Contraction and the Basis for Pharmacologic Treatment of Smooth Muscle Disorders.

Pharmacological Reviews
Brozovich, F V FV; Nicholson, C J CJ; Degen, C V CV; Gao, Yuan Z YZ; Aggarwal, M M; Morgan, K G KG
Publication Date: 2016-04

Variant appearance in text: SMA: Ser175Ala
PubMed Link: 27037223
Variant Present in the following documents:
  • Main text
View BVdb publication page