GDF2 c.153C>T ;(p.H51=)

Variant ID: 10-48416541-G-A

NM_016204.1(GDF2):c.153C>T;(p.H51=)

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:

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.

Haematologica
Island, Marie-Laure ML; Jouanolle, Anne-Marie AM; Mosser, Annick A; Deugnier, Yves Y; David, Véronique V; Brissot, Pierre P; Loréal, Olivier O
Publication Date: 2009-05

Variant appearance in text: BMP9: 153C>T
PubMed Link: 19286879
Variant Present in the following documents:
  • Main text
View BVdb publication page