ATM c.1587del ;(p.S530Qfs*13)

Variant ID: 11-108121776-TG-T

NM_000051.3(ATM):c.1587del;(p.S530Qfs*13)

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:

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06

Variant appearance in text: ATD: 1585delG
PubMed Link: 29124671
Variant Present in the following documents:
  • Main text
View BVdb publication page