Variants - The Globin Gene Server - Leiden Open Variation Database

The Globin Gene Server

alpha-2 globin (HBA2)

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 (#0002486)
Disease	Hb variants
Reference	Dr. MANDRILE Giorgia (AFZ-2487-2022)Dr. NICOLO Cinzia (AGG-7402-2022)Dr. CURCIO Cristina (D-3898-2011)
Template	DNA
Technique	SEQ
Remarks	Hb Orbassano
# Reported	1
Ethnic origin	-
Disease Mesh ID	-
Geographic origin	-

Variant data
Allele	Unknown
Reported pathogenicity	Probably pathogenic
Concluded pathogenicity	Unknown
Exon	1
DNA change	HBA2:c.46G>T
RNA change	-
Protein	p.Gly16Cys
Re-site	-
Frequency	-
DB-ID	HBA2_02158
HbVar link	-

1 entry in HBA2

Path.

Allele

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

HbVar link

+?/?

Unknown

1

-

p.Gly16Cys

-

-

HBA2_02158

-