SMN1 c.427T>C ;(p.S143P)

Variant ID: 5-70238338-T-C

NM_000344.3(SMN1):c.427T>C;(p.S143P)

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:

Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.

International Journal Of Molecular Sciences
Alonso-Barroso, Esmeralda E; Pérez, Belén B; Desviat, Lourdes Ruiz LR; Richard, Eva E
Publication Date: 2021-01-25

Variant appearance in text: SMA: S143P
PubMed Link: 33503868
Variant Present in the following documents:
  • ijms-22-01161.pdf
View BVdb publication page