IthaID: 4060


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --AG HGVS Name: NC_000016.10:g.10001_(284537_284542)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Large deletion of about 274 kb spanning from the telomeric region in 5′ the genes POLR3K, RHBDF1, MPG, NPRL3, all the α-globin gene cluster, LUC7L, FAM234A, and RGS11, to the exon 2 of the PDIA2 gene in the 3′. The deletion was identified in a family from Agrigento and was associated with α0-thalassemia and not the ATR-16 syndrome.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 274 kb
Deletion involves: HS40, ζ, α2, α1, NPRL3, HBM

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Cardiero G, Musollino G, Prezioso R, Nigro V, Lacerra G, Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster., Int J Mol Sci, 24(3), 0, 2023
Created on 2023-07-05 14:39:40, Last reviewed on 2023-07-06 10:57:31 (Show full history)

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