ATM c.5572T>C ;(p.W1858R)

Variant ID: 11-108175477-T-C

NM_000051.3(ATM):c.5572T>C;(p.W1858R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.

Frontiers In Oncology
Kadri, Mohammed Shaad N MSN; Patel, Komal M KM; Bhargava, Poonam A PA; Shah, Franky D FD; Badgujar, Nutan V NV; Tarapara, Bhoomi V BV; Patel, Prabhudas S PS; Shaikh, Mohammed Inayatullah MI; Shah, Krati K; Patel, Apurva A; Pandya, Shashank S; Vora, Hemangini H; Joshi, Chaitanya G CG; Joshi, Madhvi N MN
Publication Date: 2020

Variant appearance in text: ATM: 5572T>C; Trp1858Arg
PubMed Link: 33552952
Variant Present in the following documents:
  • Main text
  • fonc-10-568786.pdf
View BVdb publication page



Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: ATM: W1858R
PubMed Link: 29449315
Variant Present in the following documents:
  • Main text
  • MCS002352Sua.pdf
View BVdb publication page