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ATM c.8565_8566delinsAA ;(p.S2855_V2856delinsRI)
Variant ID: 11-108216616-TG-AA
NM_000051.3(
ATM
):c.8565_8566delinsAA;(p.S2855_V2856delinsRI)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 8565_8566delTGinsAA; Ser2855_Val2856delinsArgIle; rs587781353
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: ATM: 8565_8566delTGinsAA; Ser2855_Val2856delinsArgIle
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page