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.
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
- 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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