IthaID: 3728



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Cap +30 A>C HGVS Name: HBA2:c.-8A>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTCTTCTGGTCCCCACAGACTCAGAGAG [A/C] ACCCACCATGGTGCTGTCTCCTGCCGAC (Strand: +)

Also known as:

Comments: Found in one case with compound heterozygosity with rightward crossover -α3.7 [IthaID: 300], presented with Hb 14.3 g/dL, MCV 74.7 fL, MCH 23.8 pg, RBC 6 10^12/L and elevated level of HbA2 3.9%.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33768
Size: 1 bp
Located at: α2
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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To the best of our knowledge, this is unpublished data.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 2020-11-24First report.
Created on 2021-02-09 08:53:12, Last reviewed on (Show full history)

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