SMN1 c.867C>T ;(p.C289=)

Variant ID: 5-70247800-C-T

NM_000344.3(SMN1):c.867C>T;(p.C289=)

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:

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

European Journal Of Human Genetics : Ejhg
Sugarman, Elaine A EA; Nagan, Narasimhan N; Zhu, Hui H; Akmaev, Viatcheslav R VR; Zhou, Zhaoqing Z; Rohlfs, Elizabeth M EM; Flynn, Kerry K; Hendrickson, Brant C BC; Scholl, Thomas T; Sirko-Osadsa, Deborah Alexa DA; Allitto, Bernice A BA
Publication Date: 2012-01

Variant appearance in text: SMN1: 867C>T; C289C
PubMed Link: 21811307
Variant Present in the following documents:
  • Main text
  • ejhg2011134a.pdf
View BVdb publication page