BBS7 c.601+1G>A

Variant ID: 4-122776643-C-T

NM_176824.2(BBS7):c.601+1G>A

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: BBS7: 601+1G>A
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page