Bibliome.ai browser hg19
Search
About
Stats
FAQ
ARMC4 c.2359C>A ;(p.R787S)
Variant ID: 10-28224075-G-T
NM_018076.2(
ARMC4
):c.2359C>A;(p.R787S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.
Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022
Variant appearance in text: rs35242712
PubMed Link:
36582804
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09
Variant appearance in text: rs35242712
PubMed Link:
29974678
Variant Present in the following documents:
MGG3-6-739-s002.xlsx, sheet 3
MGG3-6-739-s002.xlsx, sheet 4
MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page