IthaID: 3686



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: IVS II-672 (A>C) HGVS Name: HBB:c.316-179A>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CAGTGATAATTTCTGGGTTAAGGCAATAGCAATATCTCTGC [A/C] TATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAGG (Strand: +)

Also known as:

Comments: Found in two individuals, a Chinese female and a Malay male. The 71-year-old female presented with severe decreased levels of MCV (63 fL) and MCH (19.3 pg). The 27-year-old male presented with mild decreased levels of MCV (76.8 fL) and MCH (26.1 pg) but with elevated Hb A2 (3.8 %).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71711
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-10-20First report.
Created on 2020-10-27 14:13:51, Last reviewed on 2023-03-07 13:02:58 (Show full history)

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