Bibliome.ai browser hg19
Search
About
Stats
FAQ
HFE c.607del ;(p.D203Tfs*8)
Variant ID: 6-26091806-TG-T
NM_000410.3(
HFE
):c.607del;(p.D203Tfs*8)
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:
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Hypoxia (Auckland, N.Z.)
Gardie, Betty B; Percy, Melanie J MJ; Hoogewijs, David D; Chowdhury, Rasheduzzaman R; Bento, Celeste C; Arsenault, Patrick R PR; Richard, Stéphane S; Almeida, Helena H; Ewing, Joanne J; Lambert, Frédéric F; McMullin, Mary Frances MF; Schofield, Christopher J CJ; Lee, Frank S FS
Publication Date: 2014
Variant appearance in text: HFE: 606delG
PubMed Link:
27774468
Variant Present in the following documents:
Main text
View BVdb publication page