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.




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