TTC28 c.3380T>A ;(p.L1127H)

Variant ID: 22-28497196-A-T

NM_001145418.1(TTC28):c.3380T>A;(p.L1127H)

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: TTC28: 3380T>A; L1127H
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page