ATM c.3742_3743insGGAGGTTCT ;(p.F1247_Y1248insWRF)

ATM c.3742_3743insGGAGGTTCT ;(p.F1247_Y1248insWRF)

Variant ID: 11-108153598-T-TTTCTGGAGG

NM_000051.3(ATM):c.3742_3743insGGAGGTTCT;(p.F1247_Y1248insWRF)

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:

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Neuromolecular Medicine

Huang, Yu Y; Yang, Lu L; Wang, Jianchun J; Yang, Fan F; Xiao, Ying Y; Xia, Rongjun R; Yuan, Xianhou X; Yan, Mingshan M

Publication Date: 2013-09

Variant appearance in text: ATM: 3742_3743insGGAGGTTCT

PubMed Link: 23807571

Variant Present in the following documents:

Main text

12017_2013_Article_8240.pdf

View BVdb publication page