SMN1 c.*3+116A>C

Variant ID: 5-70247937-A-C

NM_000344.3(SMN1):c.*3+116A>C

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:

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Italian Journal Of Pediatrics
Zhang, Ruiping R; Gu, Chunyu C; Pu, Linjie L; Meng, Yingtao Y; Shu, Jianbo J; Cai, Chunquan C
Publication Date: 2020-11-04

Variant appearance in text: rs200563560
PubMed Link: 33148303
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_925.pdf
View BVdb publication page