IthaID: 304

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-α3.5	HGVS Name:	NG_000006.1:g.37464_40964del3501
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:	α-thalassaemia
Allele Phenotype:	α⁺
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37464
Size:	3.501 kb
Deletion involves:	α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Kulozik AE, Kar BC, Serjeant GR, Serjeant BE, Weatherall DJ, The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene., Blood, 71(2), 467-72, 1988 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.

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