IthaID: 3394

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	223 kb deletion	HGVS Name:	NC_000011.10:g.5010012_5232933del
Hb Name:	N/A	Protein Info:	N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: The deletion spans 223 kb on the β-globin gene cluster, extending from the 3′UTR of the δ-globin gene to 215 kb downstream of the β-globin gene. Analysis method: SALSA MLPA P102 HBB kit (MRC Holland).

External Links

HbVar

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:	64683
Size:	222.925 kb
Deletion involves:	δ, β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Zhu F, Wei X, Cai D, Pang D, Zhong J, Liang M, Zuo Y, Xu X, Shang X, A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient., Int J Lab Hematol, 2019 PubMed

Created on 2019-04-09 11:02:03, Last reviewed on 2021-03-19 13:00:32 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-04-09 11:02:03	The IthaGenes Curation Team	Created
2	2019-04-09 11:02:51	The IthaGenes Curation Team	Reviewed. Location added.
3	2019-04-09 12:41:01	The IthaGenes Curation Team	Reviewed.
4	2019-04-12 13:31:18	The IthaGenes Curation Team	Reviewed. HbVar link added.
5	2019-05-02 16:48:32	The IthaGenes Curation Team	Reviewed. Ethnic origin added.
6	2021-03-19 13:00:32	The IthaGenes Curation Team	Reviewed. HGVS name, size, locus and chromosome location corrected.

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