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LONP1 c.1387G>A ;(p.D463N)
Variant ID: 19-5700919-C-T
NM_004793.3(
LONP1
):c.1387G>A;(p.D463N)
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:
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Movement Disorders Clinical Practice
Gauquelin, Laurence L; Hartley, Taila T; Tarnopolsky, Mark M; Dyment, David A DA; Brais, Bernard B; Geraghty, Michael T MT; Tétreault, Martine M; Ahmed, Sohnee S; Rojas, Samantha S; Choquet, Karine K; Majewski, Jacek J; Bernier, François F; Innes, Allan Micheil AM; Rouleau, Guy G; Suchowersky, Oksana O; Boycott, Kym M KM; Yoon, Grace G
Publication Date: 2020-11
Variant appearance in text: LONP1: 1387G>A; Asp463Asn
PubMed Link:
33163565
Variant Present in the following documents:
Main text
View BVdb publication page