IthaID: 3730


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: IVS I-73 G>A HGVS Name: HBA2:c.96-45G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCACAGGCCACCCTCAACCGTCCT [G/A] GCCCCGGACCCAAACCCCACCCCT (Strand: +)

Also known as:

Comments: Reported in 1 case in cis with -α3.7 [IthaID: 300] and compound heterozygosity with Poly A (AATAAA>AATA--) [IthaID: 425].Clinically presented with Hb 12.6 g/dL and reduced level of MCV 61.4 fL and MCH 18.8 pg.

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: 33943
Size: 1 bp
Located at: α2
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
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To the best of our knowledge, this is unpublished data.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 2020-11-24First report.
Created on 2021-02-10 07:48:06, Last reviewed on 2021-05-14 15:41:55 (Show full history)

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