Variants - The Globin Gene Server - Leiden Open Variation Database

The Globin Gene Server

beta globin (HBB)

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 (#0002280)
Disease	Hb variants
Reference	Brennan SO et al.;Ghallyan N et al.;
Template	DNA
Technique	SEQ
Remarks	Hb Ashburton
# Reported	1
Ethnic origin	-
Disease Mesh ID	-
Geographic origin	-

Variant data
Allele	Unknown
Reported pathogenicity	Probably pathogenic
Concluded pathogenicity	Unknown
Exon	1
DNA change	HBB:c.37A>C
RNA change	-
Protein	p.Thr13Pro
DB-ID	HBB_01954
HbVar link	-
Frequency	-
Re-site	-

1 entry in HBB

Path.

Allele

Exon

DNA change

RNA change

Protein

DB-ID

HbVar link

Frequency

Re-site

+?/?

Unknown

1

-

p.Thr13Pro

HBB_01954

-

-

-