SMN1 c.643A>T ;(p.N215Y)

Variant ID: 5-70240500-A-T

NM_000344.3(SMN1):c.643A>T;(p.N215Y)

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:

Cytoplasmic dynein and its regulatory proteins in Golgi pathology in nervous system disorders.

Frontiers In Neuroscience
Jaarsma, Dick D; Hoogenraad, Casper C CC
Publication Date: 2015

Variant appearance in text: SMA: N215Y
PubMed Link: 26578860
Variant Present in the following documents:
  • Main text
  • fnins-09-00397.pdf
View BVdb publication page