IthaID: 232


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser HGVS Name: HBB:c.326_337delACGTGCTGGTCT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ATCTTCCTCCCACAGCTCCTGGGCA [ACGTGCTG/-] GTGTGCTGGCCCATCACTTTGGCAA (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71900
Size: 12 bp
Located at: β
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Flatz G, Wilke K, Syagailo YV, Eigel A, Horst J, Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. Online., Human mutation, 13(3), 258, 1999
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-23 12:37:09 (Show full history)

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