SMN1 c.786T>G ;(p.S262R)

Variant ID: 5-70241955-T-G

NM_000344.3(SMN1):c.786T>G;(p.S262R)

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 analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Rna Biology
Souček, Přemysl P; Réblová, Kamila K; Kramárek, Michal M; Radová, Lenka L; Grymová, Tereza T; Hujová, Pavla P; Kováčová, Tatiana T; Lexa, Matej M; Grodecká, Lucie L; Freiberger, Tomáš T
Publication Date: 2019-10

Variant appearance in text: SMN1: 786T>G
PubMed Link: 31213135
Variant Present in the following documents:
  • Main text
View BVdb publication page