IthaID: 3797


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS II-509 (-A) HGVS Name: HBB:c.316-342delA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTTGCATTTGTAATTTTAAAAA [A/-] TGCTTTCTTCTTTTAATATACTT (Strand: -)

Also known as:

Comments: Found in a 6-month-old Croatian girl presented with β-thalassemia minor.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71548
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Croatian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Vucak J, Turudic D, Milosevic D, Bilic M, Salek Z, Rincic M, Bilic E, Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations., J Pediatr Hematol Oncol, 40(2), e77-e82, 2018
Created on 2021-06-14 13:00:43, Last reviewed on 2022-10-19 15:13:29 (Show full history)

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