IthaID: 3631



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 104 TGC>TAC HGVS Name: HBA2:c.314G>A
Hb Name: Hb Sallanches Protein Info: N/A

Also known as:

Comments: Found in the context of a −α3.7 thalassemia chromosome. Reported during routine screening in trans with --SA or -α3.7 in three individuals.

External Links

No available links

Phenotype

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

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: No

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2020-09-28 11:48:37, Last reviewed on 2020-10-02 10:33:31 (Show full history)

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