Bibliome.ai browser hg19
Search
About
Stats
FAQ
PARP1 c.205G>C ;(p.V69L)
Variant ID: 1-226589996-C-G
NM_001618.3(
PARP1
):c.205G>C;(p.V69L)
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: PARP1: 205G>C
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page