PALB2 c.2145T>A ;(p.D715E)

Variant ID: 16-23641330-A-T

NM_024675.3(PALB2):c.2145T>A;(p.D715E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional characterization of 84 PALB2 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ
Publication Date: 2020-03

Variant appearance in text: PALB2: D715E
PubMed Link: 31636395
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_682.pdf
View BVdb publication page