IthaID: 4070


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 68 (-C) HGVS Name: HBA2:c.207del
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AGAAGGTGGCCGACGCGCTGACCAA [C/-] GCCGTGGCGCACGTGGACGACATGC (Strand: +)

Also known as:

Comments: Found in a 31-year-old Chinese male presented with mild microcytosis (Hb 15.3g/dL, MCV 77.7 fL, MCH 25.7 pg, RBC 5.94×10^12/L).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34099
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Li, Wei2023-09-07First report.
Created on 2023-09-27 15:30:16, Last reviewed on 2024-01-22 12:21:34 (Show full history)

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