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


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


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.