IthaID: 2479
Names and Sequences
Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
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Common Name: | 1992 bp deletion | HGVS Name: | NG_000007.3:g.11835_13826del |
Also known as:
External Links
Phenotype
Allele Phenotype: | Neutral |
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Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 11835 |
Size: | 1.992 kb |
Deletion involves: | βLCR |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Spanish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2014-06-04 09:49:02,
Last reviewed on 2022-02-02 11:16:00 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2014-06-04 09:49:02 | The IthaGenes Curation Team | Created |
2 | 2014-06-04 09:50:29 | The IthaGenes Curation Team | Reviewed. Detection method added. |
3 | 2022-02-02 11:16:00 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2022-05-18 09:45:18