IthaID: 3785
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | -6 G>C | HGVS Name: | HBA2:c.-43G>C |
Context nucleotide sequence:
TAAACCCTGGCGCGCTCGCGG [G/C] CCGGCACTCTTCTGGTCCCCACA (Strand: +)
Also known as:
Comments: Variation is reported in gnomAD with allele frequencies >1% Popmax Filtering AF.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33733 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2021-04-05 14:56:32,
Last reviewed on (Show full history)
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