IthaID: 3631

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-α3.7;CD 104 TGC>TAC	HGVS Name:	N/A
Hb Name:	Hb Sallanches	Protein Info:	N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: The missense mutation HBA2:c.314G>A found in the context of a −α3.7 thalassaemia chromosome.

External Links

No available links

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	1 bp
Located at:	α3.7 hybrid
Specific Location:	N/A

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Indian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Nadkarni AH, Gorakshakar AC, Sawant PM, Italia KY, Upadhye DS, Gorivale MS, Mehta PR, Hariharan P, Ghosh K, Colah RB, The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center., Int J Lab Hematol, 41(2), 218-226, 2019

Created on 2020-09-28 11:48:37, Last reviewed on 2021-11-04 11:25:53 (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-09-28 11:48:37	The IthaGenes Curation Team	Created
2	2020-09-28 11:49:10	The IthaGenes Curation Team	Reviewed.
3	2020-09-28 12:03:48	The IthaGenes Curation Team	Reviewed.
4	2020-09-28 12:05:08	The IthaGenes Curation Team	Reviewed.
5	2020-10-02 10:32:58	The IthaGenes Curation Team	Reviewed. Comment added. Location corrected.
6	2020-10-02 10:33:31	The IthaGenes Curation Team	Reviewed.
7	2021-11-04 11:25:53	The IthaGenes Curation Team	Reviewed. Common name corrected. HGVS name deleted.

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