SMN1 c.220C>G ;(p.P74A)

Variant ID: 5-70237282-C-G

NM_000344.3(SMN1):c.220C>G;(p.P74A)

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:

Neurofilament Phosphorylation during Development and Disease: Which Came First, the Phosphorylation or the Accumulation?

Journal Of Amino Acids
Dale, Jeffrey M JM; Garcia, Michael L ML
Publication Date: 2012

Variant appearance in text: SMA: P74A
PubMed Link: 22570767
Variant Present in the following documents:
  • Main text
View BVdb publication page