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:

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;

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Response to hydroxyurea


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To the best of our knowledge, this is unpublished data.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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