Bibliome.ai browser hg19
Search
About
Stats
FAQ
PSEN1 c.491C>G ;(p.A164G)
Variant ID: 14-73653571-C-G
NM_000021.3(
PSEN1
):c.491C>G;(p.A164G)
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:
Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.
Journal Of Cellular And Molecular Medicine
Fang, Xuqian X; Zhang, Yuwen Y; Cai, Jialin J; Lu, Tingwei T; Hu, Junjie J; Yuan, Fei F; Chen, Peizhan P
Publication Date: 2020-10
Variant appearance in text: PSEN1: A164G
PubMed Link:
32864857
Variant Present in the following documents:
Main text
View BVdb publication page