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EHBP1 c.959A>T ;(p.Y320F)
Variant ID: 2-63092067-A-T
NM_001142616.1(
EHBP1
):c.959A>T;(p.Y320F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: EHBP1: 959A>T; Y320F
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page