IthaID: 3682


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: IVS II-180 (T>C) HGVS Name: HBB:c.315+180T>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTTTAGTTTCTTTTATTTGCTGTTCATAACAATTGT [T/C] TTCTTTTGTTTAATTCTTGCTTTCTTTTTTTTTCTT

Also known as:

Comments: Found in nine individuals (six Malay, one Chinese, one Asian and one with unknown origin). The novel mutation found in combination with the rightward –α3.7 deletion [IthaID: 300] in a 24-year-old female presented with elevated Hb A2 (5.8 %) level and slightly decreased MCV (77.6 fL) and MCH (24.6 pg). However, in a 24-year-old male, the mutation found with combination with the rightward –α3.7 deletion, but showed normal hematological indices with only slightly elevated Hb A2 (3.4 %) level.

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: 71219
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, Ibany
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To the best of our knowledge, this is unpublished data.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
1Mohd Yasin, Norafiza 2020-10-20First report.
Created on 2020-10-27 14:06:45, Last reviewed on (Show full history)

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