IthaID: 3683


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: IVS II-308 (-A) HGVS Name: HBB:c.315+308delA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AAATATCTCTGAGATACATTAAGTAACTTAAAAAAAA [A/-] CTTTACACAGTCTGCCTAGTACATTACTATTTGGAATA (Strand: +)

Also known as:

Comments: Found in four cases (Chinese and Dusun) with mild decreased MCV and MCH levels. In one of the four cases, the novel mutation reported in combination with the Hb G-Honolulu [IthaID: 502] in a 16-year-old Chinese female presented with an elevated Hb A2 (19.6 %) level. Also, one additional case was reported in a 27-year-old Chinese female with no clinical presentation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: 71347
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Chinese, Dusun
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To the best of our knowledge, this is unpublished data.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, Youqiong2021-03-09Report of an update.
Created on 2020-10-27 14:08:39, Last reviewed on 2022-09-22 14:50:57 (Show full history)

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