ATM c.915A>T ;(p.S305=)

Variant ID: 11-108117704-A-T

NM_000051.3(ATM):c.915A>T;(p.S305=)

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:

Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

Nucleic Acid Therapeutics
Siva, Kavitha K; Covello, Giuseppina G; Denti, Michela A MA
Publication Date: 2014-02

Variant appearance in text: ATM: S305S
PubMed Link: 24506781
Variant Present in the following documents:
  • Main text
View BVdb publication page