
IthaID: 146
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 41 (-C) | HGVS Name: | HBB:c.126delC |
Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGTCTACCCTTGGACCCAGAGGTT [-/C] TTTGAGTCCTTTGGGGATCTGTCCA (Strand: -)
Also known as:
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70850 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β0 |
Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
---|---|
Effect on Gene/Protein Function: | Frameshift (Translation) |
Ethnic Origin: | Thai |
Molecular mechanism: | Altered heme pocket |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
Frequencies
Publications / Origin
- Fucharoen S, Fucharoen G, Laosombat V, Fukumaki Y, Double heterozygosity of the beta-Malay and a novel beta-thalassemia gene in a Thai patient., American journal of hematology, 38(2), 142-4, 1991
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2021-01-15 14:32:59