IthaID: 3223


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CAP +48 (A>T) HGVS Name: HBD:c.-6A>T
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The variant is located in the 5’ UTR at +48 position. It was found in a patient, who is also carrier for the IVS I-5 (G>C) mutation, with borderline HbA2 (3.7%). Normally, IVS I-5 (G>C) carriers have elevated HbA2. This variation is located at the most conserve region of the Kozak sequence (-3 to the start codon). No abnormal peak was observed on HPLC as opposed to low percentage S-window peak on most HBD variants.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63019
Size: 1 bp
Located at: δ
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Malaysian Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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To the best of our knowledge, this is unpublished data.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
1Syahzuwan, Hassan2017-07-05First report.
Created on 2017-07-10 14:36:09, Last reviewed on 2017-07-10 14:38:19 (Show full history)

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