IthaID: 3671


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -76 C>T HGVS Name: HBB:c.-126C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TCACCCTGTGGAGCCACACCCTAGGGTTGG [C/T] CAATCTACTCCCAGGAGCAGGGAGGGCAGG (Strand: -)

Also known as:

Comments: Found in two Malay individuals with slightly increased Hb A2 levels (3.5%). The substitution C>T hits the first nucleotide in the CCAAT box of the β-globin gene.

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: 70469
Size: 1 bp
Located at: β
Specific Location: Promoter

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To the best of our knowledge, this is unpublished data.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 2020-10-22 16:34:00, Last reviewed on 2020-10-23 10:33:47 (Show full history)

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