IthaID: 4090


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --Mococa (17 kb deletion) HGVS Name: NC_000016.10:g.(162059_162078)_(179126_179145)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: This deletion spans approximately 17 kb on the α-globin gene locus, removing both HBA2 and HBA1 genes, as well as HBAP1, HBM and HBZP1. The breakpoints are located in two 20 nucleotides repeats (GCCTGTAATCCCAGCTACTC) at positions 16:162,059-162,078 and 16:179,126-179,145 (GRCh38). Codominant inheritance.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 17 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1da Luz, Julio2023-12-29First report.
Created on 2024-01-15 15:55:03, Last reviewed on 2024-01-15 15:56:59 (Show full history)

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