Bibliome.ai browser hg19
Search
About
Stats
FAQ
SMN1 c.829T>C ;(p.Y277H)
Variant ID: 5-70241998-T-C
NM_000344.3(
SMN1
):c.829T>C;(p.Y277H)
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:
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Genes
Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M
Publication Date: 2022-01-24
Variant appearance in text: SMN1: Y277H
PubMed Link:
35205250
Variant Present in the following documents:
Main text
genes-13-00205.pdf
View BVdb publication page