IthaID: 178
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 72-73 (-AGTGA, +T) | HGVS Name: | HBB: c.217_221delAGTGAinsT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGCAAGAAAGTGCTCGGTGCCTTT [AGTGA/T] TGGCCTGGCTCACCTGGACAACCTC (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70941 |
| Size: | 5 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | British |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Waye JS, Eng B, Patterson M, Chui DH, Fernandes BJ, Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T)., Hemoglobin, 21(4), 385-7, 1997
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-05-26 16:10:29 (Show full history)
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