IthaID: 3672



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -73 A>C HGVS Name: HBB:c.-123A>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CACCCTGTGGAGCCACACCCTAGGGTTGGCCA [A/C] TCTACTCCCAGGAGCAGGGAGGGCAGGAGCCA

Also known as:

Comments: Found in three Malay females with normal hematological presentation and only slightly increased Hb A2 levels (3.8%). The novel variant found in combination with the rightward –α3.7 deletion in one of the females.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70472
Size: 1 bp
Located at: β
Specific Location: Promoter

Phenotype

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

Sequence Viewer

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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To the best of our knowledge, this is unpublished data.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 2020-10-23 10:46:27, Last reviewed on (Show full history)

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