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ATM c.1108del ;(p.Y370Tfs*20)
Variant ID: 11-108119700-CT-C
NM_000051.3(
ATM
):c.1108del;(p.Y370Tfs*20)
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:
The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.
Balkan Journal Of Medical Genetics : Bjmg
Muthaffar, O Y OY
Publication Date: 2020-11
Variant appearance in text: ATM: 1107del
PubMed Link:
33816068
Variant Present in the following documents:
bjmg-23-017.pdf
View BVdb publication page