ATM c.4620C>T ;(p.D1540=)

Variant ID: 11-108164048-C-T

NM_000051.3(ATM):c.4620C>T;(p.D1540=)

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:

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Jnci Cancer Spectrum
Akamatsu, Shusuke S; Terada, Naoki N; Takata, Ryo R; Kinoshita, Hidefumi H; Shimatani, Kimihiro K; Momozawa, Yukihide Y; Yamamoto, Michio M; Tada, Harue H; Kawamorita, Naoki N; Narita, Shintaro S; Kato, Takuma T; Nitta, Masahiro M; Kandori, Shuya S; Koike, Yusuke Y; Inazawa, Johji J; Kimura, Takahiro T; Kimura, Hiroko H; Kojima, Takahiro T; Terachi, Toshiro T; Sugimoto, Mikio M; Habuchi, Tomonori T; Arai, Yoichi Y; Yamamoto, Shingo S; Matsuda, Tadashi T; Obara, Wataru W; Kamoto, Toshiyuki T; Inoue, Takahiro T; Nakagawa, Hidewaki H; Ogawa, Osamu O
Publication Date: 2022-02

Variant appearance in text: ATM: Asp1540Asp
PubMed Link: 35118230
Variant Present in the following documents:
  • Main text
View BVdb publication page


Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Jnci Cancer Spectrum
Akamatsu, Shusuke S; Terada, Naoki N; Takata, Ryo R; Kinoshita, Hidefumi H; Shimatani, Kimihiro K; Momozawa, Yukihide Y; Yamamoto, Michio M; Tada, Harue H; Kawamorita, Naoki N; Narita, Shintaro S; Kato, Takuma T; Nitta, Masahiro M; Kandori, Shuya S; Koike, Yusuke Y; Inazawa, Johji J; Kimura, Takahiro T; Kimura, Hiroko H; Kojima, Takahiro T; Terachi, Toshiro T; Sugimoto, Mikio M; Habuchi, Tomonori T; Arai, Yoichi Y; Yamamoto, Shingo S; Matsuda, Tadashi T; Obara, Wataru W; Kamoto, Toshiyuki T; Inoue, Takahiro T; Nakagawa, Hidewaki H; Ogawa, Osamu O
Publication Date: 2022-02

Variant appearance in text: ATM: Asp1540Asp
PubMed Link: 35118230
Variant Present in the following documents:
  • Main text
View BVdb publication page


Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: ATM: 4620C>T; Asp1540Asp
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page