IthaID: 1510

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	Black (δβ)0	HGVS Name:	NG_000007.3:g.(60530_60730)_(72351_72551)del11822
Hb Name:	N/A	Protein Info:	N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

dbSNP

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	δβ-thalassaemia
Allele Phenotype:	GγAγ(δβ)0
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	60530
Size:	11.767 kb
Deletion involves:	δ, β

Other details

Type of Mutation:	Deletion
Ethnic Origin:	African
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Breakpoint Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Anagnou NP, Papayannopoulou T, Stamatoyannopoulos G, Nienhuis AW, Structurally diverse molecular deletions in the beta-globin gene cluster exhibit an identical phenotype on interaction with the beta S-gene., Blood, 65(5), 1245-51, 1985 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.

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