SMN1 c.764A>C ;(p.D255A)

Variant ID: 5-70241933-A-C

NM_000344.3(SMN1):c.764A>C;(p.D255A)

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:

Survival motor neuron protein modulates neuron-specific apoptosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kerr, D A DA; Nery, J P JP; Traystman, R J RJ; Chau, B N BN; Hardwick, J M JM
Publication Date: 2000-11-21

Variant appearance in text: SMA: D255A
PubMed Link: 11078511
Variant Present in the following documents:
  • Main text
View BVdb publication page