IthaID: 387


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 82-84 (-9 bp) HGVS Name: HBA1:c.247_255del
Hb Name: N/A Protein Info: α1 82(F3) - 84(F5) Ala-Leu-Ser->0

Context nucleotide sequence:
GGACGACATGCCCAACGCGCTGTCC [GCCCTGAGC/-] GACCTGCACGCGCACAAGCTTCGGG (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37943
Size: 9 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Portugese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2010-06-16 16:13:15, Last reviewed on 2021-05-26 11:03:16 (Show full history)

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