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APOE c.571_573delinsTGA ;(p.G191*)
Variant ID: 19-45412124-GGC-TGA
NM_000041.2(
APOE
):c.571_573delinsTGA;(p.G191*)
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:
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020
Variant appearance in text: APOE: G191X
PubMed Link:
32793292
Variant Present in the following documents:
Main text
fgene-11-00833.pdf
View BVdb publication page