VPS13A c.8035G>A ;(p.A2679T)

Variant ID: 9-79973354-G-A

NM_033305.2(VPS13A):c.8035G>A;(p.A2679T)

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:

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Movement Disorders Clinical Practice
Nagy, Anna A; Noyce, Alastair A; Velayos-Baeza, Antonio A; Lees, Andrew J AJ; Warner, Thomas T TT; Ling, Helen H
Publication Date: 2015-06

Variant appearance in text: VPS13A: 8035G>A
PubMed Link: 30713892
Variant Present in the following documents:
  • Main text
View BVdb publication page