APAF1 c.3209G>A ;(p.W1070*)

Variant ID: 12-99117421-G-A

NM_181861.1(APAF1):c.3209G>A;(p.W1070*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: APAF1: 3209G>A
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page