Variants - The Globin Gene Server - Leiden Open Variation Database

The Globin Gene Server

A-gamma globin (HBG1)

LOVD v.2.0 Build 38 [ Current LOVD status ]
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Curators: Belinda Giardine and Joseph Borg

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000639)
Disease	Hb variants
Reference	(OMIM 0018);SwissVar VAR_003161;Huisman TH et al.;Huisman TH et al.;Grifoni V et al.;
Template	Protein
Technique	Amino
Remarks	Hb F-Sardinia (AgammaT)
# Reported	1
Ethnic origin	-
Disease Mesh ID	C040337
Geographic origin	-

Variant data
Allele	Unknown
Reported pathogenicity	Probably pathogenic
Concluded pathogenicity	Unknown
Exon	2
DNA change	U01317.1(HBG1):c.227T>C
RNA change	-
Protein	p.Ile76Thr
Re-site	-
Frequency	-
DB-ID	HBG1_00639
HbVar link	HbVar

1 entry in HBG1

Path.

Allele

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

HbVar link

+?/?

Unknown

2

U01317.1(HBG1):c.227T>C

-

p.Ile76Thr

-

-

HBG1_00639