IthaID: 1535

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	Irish (εγδβ)0	HGVS Name:	NC_000011.8:g.5110112_5312961del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	N/A
Size:	205 kb
Deletion involves:	βLCR, ε, Aγ, Gγ, δ, β, pseudo β

Other details

Type of Mutation:	Deletion
Ethnic Origin:	Irish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Breakpoint Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Fortina P, Delgrosso K, Werner E, Haines K, Rappaport E, Schwartz E, Surrey S, A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent., Hemoglobin, 15(1), 23-41, 1991 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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