IthaID: 3255

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	--MEX3	HGVS Name:	NC_000016.10:g.151479_182582del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

ClinVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	31.1 kb
Deletion involves:	ζ, α2, α1, HBM

Other details

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

In silico pathogenicity prediction

Publications / Origin

Rentería-López VM, Perea-Díaz FJ, Rizo-delaTorre LC, Sánchez-López JY, Ibarra-Cortés B, A Novel 31.1 kb α-Thalassemia Deletion (- -(MEX3)) Found in a Mexican Family., Hemoglobin , 2017

Created on 2017-09-06 19:13:58, Last reviewed on 2017-09-06 19:15:27 (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-09-06 19:13:58	The IthaGenes Curation Team	Created
2	2017-09-06 19:15:27	The IthaGenes Curation Team	Reviewed.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.