IthaID: 3277

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	538 bp deletion	HGVS Name:	HBB:c.-464_74del \| NG_000007.3:g.70131_70668del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The deletion spans 538 bp and removes the β-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. The 5' deletion breakpoint is at position -464 relative to the translation initiation codon (position +1 is A of the ATG), and the 3' breakpoint is within amino acid codon 26.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

LOVD

ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70131
Size:	538 bp
Deletion involves:	β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Waye JS, Hanna M, Hohenadel BA, Nakamura L, Walker L, Eng B, Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene., Hemoglobin , 2017 PubMed

Created on 2017-12-11 18:08:32, Last reviewed on 2018-01-08 19:15:59 (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-12-11 18:08:32	The IthaGenes Curation Team	Created
2	2017-12-11 18:14:56	The IthaGenes Curation Team	Reviewed. Location added.
3	2018-01-08 19:14:56	The IthaGenes Curation Team	Reviewed. Mutation comment edited.
4	2018-01-08 19:15:59	The IthaGenes Curation Team	Reviewed.

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