IthaID: 3233


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS I 3'’ AG>-C HGVS Name: HBD:c.93-2delA
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: One additional case was reported in a 28-year-old Chinese male presented normal haematological indices with decreased Hb A2 level.

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
δ+
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63401
Size: 1 bp
Located at: δ
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2022-09-08Report of an update.
Created on 2017-07-12 12:12:18, Last reviewed on 2022-09-15 12:04:38 (Show full history)

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