IthaID: 3536



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1479076497 HGVS Name: NC_000010.11:g.70151278_70151284del

Context nucleotide sequence:
CATACCAAAAAAAAAAAAAAAAAA [ -/AAAAAAA] CCTGGAAAAGCTACAGATGTTAACC (Strand: +)

Also known as:

Comments: Variant showed significant association with total haemoglobin levels after hydroxyurea treatment in sickle cell disease 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: 7 bp
Located at: SAR1A
Specific Location: 3'UTR

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

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To the best of our knowledge, this is unpublished data.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 2019-12-12 13:11:16, Last reviewed on 2021-09-29 15:41:31 (Show full history)

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.