VPS13A c.694_696del ;(p.L232del)

Variant ID: 9-79828228-CTTG-C

NM_033305.2(VPS13A):c.694_696del;(p.L232del)

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:

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Neurology. Genetics
Walker, Susan S; Dad, Rubina R; Thiruvahindrapuram, Bhooma B; Ullah, Muhammed Ikram MI; Ahmad, Arsalan A; Hassan, Muhammad Jawad MJ; Scherer, Stephen W SW; Minassian, Berge A BA
Publication Date: 2018-06

Variant appearance in text: VPS13A: Leu232del
PubMed Link: 29845114
Variant Present in the following documents:
  • Main text
  • NG2018007344.pdf
View BVdb publication page