IthaID: 3540
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1482813291 | HGVS Name: | NC_000010.11:g.70151276_70151284del |
Context nucleotide sequence:
TTCATACCAAAAAAAAAAAAAAAA [-/AAAAAAAAA] CCTGGAAAAGCTACAGATGTTAACC (Strand: +)
Also known as:
Comments: Variant showed significant association with total haemoglobin levels after hydroxyurea treatment in SCD patients. Source: Blood (2019) 134 (Supplement_1): 987; doi.org/10.1182/blood-2019-124965.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Response to hydroxyurea |
Location
| Chromosome: | 10 |
|---|---|
| Locus: | NM_001142648.2 |
| Locus Location: | N/A |
| Size: | 9 bp |
| Located at: | SAR1A |
| Specific Location: | 3'UTR 0 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | N/A |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2019-12-12 15:08:51,
Last reviewed on 2019-12-12 15:41:22 (Show full history)
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