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SMN1 c.436T>C ;(p.C146R)
Variant ID: 5-70238347-T-C
NM_000344.3(
SMN1
):c.436T>C;(p.C146R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Sensory Involvement in Amyotrophic Lateral Sclerosis.
International Journal Of Molecular Sciences
Rubio, Miguel A MA; Herrando-Grabulosa, Mireia M; Navarro, Xavier X
Publication Date: 2022-12-08
Variant appearance in text: SMA: C146R
PubMed Link:
36555161
Variant Present in the following documents:
Main text
ijms-23-15521.pdf
View BVdb publication page
Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.
Ibro Neuroscience Reports
Kumar, Rupesh R; Haider, Shazia S
Publication Date: 2022-06
Variant appearance in text: SMA: C146R
PubMed Link:
34918006
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
International Journal Of Molecular Sciences
Bernard, Emilien E; Pegat, Antoine A; Svahn, Juliette J; Bouhour, Françoise F; Leblanc, Pascal P; Millecamps, Stéphanie S; Thobois, Stéphane S; Guissart, Claire C; Lumbroso, Serge S; Mouzat, Kevin K
Publication Date: 2020-09-16
Variant appearance in text: SMA: Cys146Arg
PubMed Link:
32948071
Variant Present in the following documents:
ijms-21-06807.pdf
View BVdb publication page