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HFE c.568C>T ;(p.Q190*)
Variant ID: 6-26091769-C-T
NM_000410.3(
HFE
):c.568C>T;(p.Q190*)
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:
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: HFE: 568C>T; Gln190*
PubMed Link:
33262486
Variant Present in the following documents:
Main text
41431_2020_Article_741.pdf
View BVdb publication page