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ATM c.4140T>C ;(p.H1380=)
Variant ID: 11-108159734-T-C
NM_000051.3(
ATM
):c.4140T>C;(p.H1380=)
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 genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: ATM: H1380H
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page
Radiation sensitivities of 31 human oesophageal squamous cell carcinoma cell lines.
International Journal Of Experimental Pathology
Ban, Sadayuki S; Michikawa, Yuichi Y; Ishikawa, Ken-ichi K; Sagara, Masashi M; Watanabe, Koji K; Shimada, Yutaka Y; Inazawa, Johji J; Imai, Takashi T
Publication Date: 2005-08
Variant appearance in text: ATM: His1380His
PubMed Link:
16045545
Variant Present in the following documents:
Main text
View BVdb publication page