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IthaID: 225
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | IVS II-850 G>C | HGVS Name: | HBB:c.316-1G>C |
Hb Name: | N/A | Protein Info: | β nt 1345 G>C |
Context nucleotide sequence:
TCATACCTCTTATCTTCCTCCCACA [A/C/G/T] CTCCTGGGCAACGTGCTGGTCTGTG (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: | 71889 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Intron 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
Ethnic Origin: | Yugoslavian, Croatian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Publications / Origin
- Jankovic L, Dimovski AJ, Sukarova E, Juricic D, Efremov GD, A new mutation in the beta-globin gene (IVS II-850 G-C) found in a Yugoslavian beta-thalassemia heterozygote., Haematologica, 77(2), 119-21, 1992
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-08 14:44:49 (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. |
3 | 2014-04-08 14:44:49 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-24 11:43:02