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SMN1 c.472G>T ;(p.E158*)
Variant ID: 5-70238383-G-T
NM_000344.3(
SMN1
):c.472G>T;(p.E158*)
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:
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Npj Genomic Medicine
Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A
Publication Date: 2020
Variant appearance in text: SMN1: 472G>T; Glu158*
PubMed Link:
33083013
Variant Present in the following documents:
41525_2020_150_MOESM1_ESM.pdf
View BVdb publication page