GAA c.1063_1065del ;(p.L355del)

Variant ID: 17-78082196-CCTG-C

NM_000152.3(GAA):c.1063_1065del;(p.L355del)

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:

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Clinical Genetics
Yang, Xiaoling X; Yang, Xiaoxu X; Chen, Jiaoyang J; Li, Shupin S; Zeng, Qi Q; Huang, August Y AY; Ye, Adam Y AY; Yu, Zhe Z; Wang, Sheng S; Jiang, Yuwu Y; Wu, Xiru X; Wu, Qixi Q; Wei, Liping L; Zhang, Yuehua Y
Publication Date: 2019-07

Variant appearance in text: GAA: 1063_1065del
PubMed Link: 30891744
Variant Present in the following documents:
  • Main text
View BVdb publication page