IthaID: 37
Names and Sequences
Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
---|---|---|---|
Common Name: | CAP +20 C>T; IVS II-745 C>G | HGVS Name: | HBB:c.[-31C>T;316-106C>G] |
Context nucleotide sequence:
TTGCTTACATTTGCTTCTGACACAA [C/T] TGTGTTCACTAGCAACCTCAAACAG (Strand: -)
Also known as:
Comments: This mutation is an innocuous SNP associated with the IVSII-745 mutation in cis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Allele Phenotype: | Neutral |
---|---|
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 70564 or 71784 |
Size: | 1 bp or 1 bp |
Located at: | β |
Specific Location: | 5'UTR |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | 5'UTR (Transcription) |
Ethnic Origin: | Bulgarian, Iranian, Mediterranean |
Molecular mechanism: | N/A |
Inheritance: | Quantitative trait |
DNA Sequence Determined: | Yes |
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
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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Frequencies
Publications / Origin
- Galehdari H, Salehi B, Pedram M, Oraki Kohshour M, High prevalence of rare mutations in the Beta globin gene in an ethnic group in iran., Iran Red Crescent Med J, 13(5), 356-8, 2011 PubMed
- Ropero P, González FA, Cela E, Beléndez C, Cervera A, Martínez-Nieto J, de la Fuente-Gonzalo F, Vinuesa L, Villegas A, Díaz-Mediavilla J, Association in cis of the mutations +20 (C>T) in the 5' untranslated region and IVS-II-745 (C>G) on the β-globin gene., Hemoglobin , 37(2), 112-8, 2013 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2021-09-29 12:13:41 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-04-08 11:55:14 | The IthaGenes Curation Team | Reviewed. |
4 | 2014-06-05 08:38:36 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
5 | 2014-06-05 08:39:46 | The IthaGenes Curation Team | Reviewed. Reference added. |
6 | 2016-09-05 14:53:26 | The IthaGenes Curation Team | Reviewed. |
7 | 2017-06-28 12:20:31 | The IthaGenes Curation Team | Reviewed. |
8 | 2020-09-28 16:44:22 | The IthaGenes Curation Team | Reviewed. Inheritance corrected. |
9 | 2021-09-29 12:13:41 | The IthaGenes Curation Team | Reviewed. HGVS and Common name and locus location corrected. Reference and origin added. |
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IthaGenes was last updated on 2024-12-03 11:48:06