NR0B2 c.733G>C ;(p.D245H)

Variant ID: 1-27238377-C-G

NM_021969.2(NR0B2):c.733G>C;(p.D245H)

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: SHP: D245H
PubMed Link: 27774468
Variant Present in the following documents:
  • Main text
  • hp-2-071.pdf
View BVdb publication page