IthaID: 3973

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 68 AAC>AAA HGVS Name: NG_000006.1:g.34247_38050del;34099C>A
Hb Name: Hb G-Philadelphia Protein Info: N/A

Also known as: -α3.7-Hb G-Philadelphia

Comments: The missense mutation Hb G-Philadelphia, found in the context of a −α3.7 thalassaemia chromosome, in a case with homozygosity of the rightward –α3.7 deletion.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34099
Size: 1 bp
Fusion involves: α2, α1, α3.7 hybrid

Other details

Type of Mutation: Fusion
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Papasavva, Thessalia2022-09-23First report.
Created on 2022-09-23 12:01:53, Last reviewed on 2022-09-28 11:40:18 (Show full history)

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