Bibliome.ai browser hg19
Search
About
Stats
FAQ
PPP1R9A c.4100C>T ;(p.T1367I)
Variant ID: 7-94919590-C-T
NM_001166160.1(
PPP1R9A
):c.4100C>T;(p.T1367I)
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: PPP1R9A: 4100C>T; T1367I
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page