IthaID: 3588

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --OY HGVS Name: NC_000016.10:g.0_318541del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a female with ATR-16 syndrome (monosomy of 16p13.3 chromosomal region) and α-thalassaemia presented with only microcytic anaemia. She otherwise normal. DNA sequence analysis shows telomeric repeats directly joined to the unique sequence. There is a 3 bp ambiguity, suggesting a minimal telomerase-binding site contributed to the stabilisation of this breakpoint by addition of a telomere. The last unique base is position 308543 bp (coordinates: NCBI36 (hg18), NC_000016.8), interrupting the second intron of AXIN1.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 318.541 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ, ATR-16 syndrome: mechanisms linking monosomy to phenotype., J Med Genet, 57(6), 414-421, 2020 PubMed
Created on 2020-05-18 12:45:14, Last reviewed on 2021-11-03 15:36:37 (Show full history)

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