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SMN1 c.271C>T ;(p.Q91*)
Variant ID: 5-70237333-C-T
NM_000344.3(
SMN1
):c.271C>T;(p.Q91*)
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:
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Italian Journal Of Pediatrics
Zhang, Ruiping R; Gu, Chunyu C; Pu, Linjie L; Meng, Yingtao Y; Shu, Jianbo J; Cai, Chunquan C
Publication Date: 2020-11-04
Variant appearance in text: SMN1: Gln91X
PubMed Link:
33148303
Variant Present in the following documents:
Main text
13052_2020_Article_925.pdf
View BVdb publication page