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ATM c.1798C>G ;(p.H600D)
Variant ID: 11-108122754-C-G
NM_000051.3(
ATM
):c.1798C>G;(p.H600D)
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: H600D
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
European Journal Of Human Genetics : Ejhg
Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF
Publication Date: 2021-08
Variant appearance in text: ATM: 1798C>G; His600Asp
PubMed Link:
33867526
Variant Present in the following documents:
41431_2021_886_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page