SMN1 c.638A>G ;(p.K213R)

Variant ID: 5-70240495-A-G

NM_000344.3(SMN1):c.638A>G;(p.K213R)

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:

A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2.

Intractable & Rare Diseases Research
Tumurkhuu, Munkhtuya M; Batbuyan, Uranchimeg U; Yuzawa, Satoru S; Munkhsaikhan, Yanjinlkham Y; Batmunkh, Ganbayar G; Nishimura, Wataru W
Publication Date: 2021-05

Variant appearance in text: SMA: K213R
PubMed Link: 33996355
Variant Present in the following documents:
  • Main text
View BVdb publication page