IthaID: 3689


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: TTS +127 T>C HGVS Name: HBB:c.*261T>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
AAACCTTGGGAAAATACACTATATCTTAAACTCCA [T/C] GAAAGAAGGTGAGGCTGCAAACAGCTAATGCACA (Strand: -)

Also known as:

Comments: Found in two Malay individuals, one female and one male. The 37-year-old female presented with normal hematological indices, whereas the 27-year-old male presented with mild decreased MCV (73 fL) and MCH (23.6 pg) and also 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: 72279
Size: 1 bp
Located at: β
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Malay
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To the best of our knowledge, this is unpublished data.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 14:25:05, Last reviewed on 2021-05-10 11:25:18 (Show full history)

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