SMN1 c.840C>A ;(p.F280L)

Variant ID: 5-70247773-C-A

NM_000344.3(SMN1):c.840C>A;(p.F280L)

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:

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.

International Journal Of Neonatal Screening
Strunk, Annuska A; Abbes, Andre A; Stuitje, Antoine R AR; Hettinga, Chris C; Sepers, Eline M EM; Snetselaar, Reinier R; Schouten, Jan J; Asselman, Fay-Lynn FL; Cuppen, Inge I; Lemmink, Henny H; van der Pol, W Ludo WL; Engel, Henk H
Publication Date: 2019-06

Variant appearance in text: SMA: 840C>A
PubMed Link: 33072980
Variant Present in the following documents:
  • Main text
  • IJNS-05-00021.pdf
View BVdb publication page