IthaID: 2191
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 107-111 (-12 bp): (-GCAACGTGCTGG) | HGVS Name: | HBB:c.323_334del |
| Hb Name: | N/A | Protein Info: | β 107(G9) - 110(G12) Gly-Asn-Val-Leu->0 |
Context nucleotide sequence:
TCTTATCTTCCTCCCACAGCTCCTGG [GCAACGTGCTGG/-] TCTGTGTGCTGGCCCATCACTTTGG (Strand: -)
Also known as:
Comments: Published as HBB:c.319_330delCTGGGCAACGTG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Unclear |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71897 |
| 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: | N/A |
| 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.
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2013-09-30 17:12:49,
Last reviewed on 2021-05-27 16:07:21 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-30 17:12:49 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-16 13:00:24 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-17 09:53:48 | The IthaGenes Curation Team | Reviewed. Added context sequence and corrected common name. |
| 4 | 2019-11-08 12:45:13 | The IthaGenes Curation Team | Reviewed. Mutation names and DNA info corrected. Location corrected. dbSNP link and ethnicity removed. Comment added. |
| 5 | 2021-05-27 11:03:09 | The IthaGenes Curation Team | Reviewed. Common, HGVS, protein names and location corrected. |
| 6 | 2021-05-27 11:04:11 | The IthaGenes Curation Team | Reviewed. Protein function corected. |
| 7 | 2021-05-27 16:07:21 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07