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

Phenotype

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

Location

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

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

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
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)

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.