IthaID: 1125
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 97/98 (-ACG) | HGVS Name: | HBB:c.293_295delACG |
| Hb Name: | Hb Galicia | Protein Info: | β 97(FG4) - 98(FG5) His-Val->0 AND inserted Leu |
Context nucleotide sequence:
AGTGAGCTGCACTGTGACAAGCTGC [-/ACG] TGGATCCTGAGAACTTCAGGGTGAG (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71017 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Codrington JF, Prchal JT, Hall KM, de Pablos JM, Rodriguez I, Hemoglobin Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions., Blood, 75(9), 1883-7, 1990
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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