ATM c.1609_1616del ;(p.P537Mfs*26)

Variant ID: 11-108122561-TAGTCCTGC-T

NM_000051.3(ATM):c.1609_1616del;(p.P537Mfs*26)

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:

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

Plos One
Chen, Zhao Z; Ye, Wei W; Long, Zhe Z; Ding, Dongxue D; Peng, Huirong H; Hou, Xuan X; Qiu, Rong R; Xia, Kun K; Tang, Beisha B; Jiang, Hong H
Publication Date: 2015

Variant appearance in text: ATM: 1609_1616del; P537Mfs*26
PubMed Link: 26439923
Variant Present in the following documents:
  • Main text
  • pone.0139738.pdf
View BVdb publication page