IthaID: 3237



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 59/60 (+GG) HGVS Name: HBD:c.180_181dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The frameshift results in a premature stop of δ-globin synthesis at codon 61. The premature termination of translation can produce unwanted and unstable truncated chains, usually causing δ0-thal. No Hb A2 variant was found.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63490
Size: 2 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013 PubMed
Created on 2017-07-12 12:31:48, Last reviewed on 2022-04-07 10:11:17 (Show full history)

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