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SMN1 c.126A>C ;(p.A42=)
Variant ID: 5-70234710-A-C
NM_000344.3(
SMN1
):c.126A>C;(p.A42=)
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:
A Case of Submitral Aneurysm Presenting with Severe Mitral Regurgitation and Shock in an African Male Patient with Rheumatic Heart Disease.
Case (Philadelphia, Pa.)
Barnawi, Amjad A; Al Otaibi, Abdullah A; Soliman, Ahmed A; Al Rifae, Mustafa M; Al Baradie, Abdelaziz A; Ghazal, Sami S
Publication Date: 2021-08
Variant appearance in text: SMA: A42A
PubMed Link:
34430771
Variant Present in the following documents:
Main text
View BVdb publication page