ABCA7 c.5513G>A ;(p.R1838H)

Variant ID: 19-1061830-G-A

NM_019112.3(ABCA7):c.5513G>A;(p.R1838H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs764042049
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Cell Reports
Roper, Nitin N; Gao, Shaojian S; Maity, Tapan K TK; Banday, A Rouf AR; Zhang, Xu X; Venugopalan, Abhilash A; Cultraro, Constance M CM; Patidar, Rajesh R; Sindiri, Sivasish S; Brown, Anna-Leigh AL; Goncearenco, Alexander A; Panchenko, Anna R AR; Biswas, Romi R; Thomas, Anish A; Rajan, Arun A; Carter, Corey A CA; Kleiner, David E DE; Hewitt, Stephen M SM; Khan, Javed J; Prokunina-Olsson, Ludmila L; Guha, Udayan U
Publication Date: 2019-03-05

Variant appearance in text: ABCA7: R1838H
PubMed Link: 30840888
Variant Present in the following documents:
  • NIHMS1523294-supplement-6.xlsx, sheet 8
  • NIHMS1523294-supplement-6.xlsx, sheet 1
View BVdb publication page