IthaID: 3535


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs56381518 HGVS Name: NC_000010.11:g.70170483A>C | NC_000010.11:g.70170483A>G | NC_000010.11:g.70170483A>T

Context nucleotide sequence:
CTCAGAGCACACTAACCAGCAGC [A/C/G/T] CCCGGGACCGCCAGCTACTCGCC (Strand: +)

Also known as:

Comments: Associated with a change in total hemoglobin levels after HU treatment in SS patients.

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: 1 bp
Located at: SAR1A
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Kumkhaek C, Kim C, Kurban G, Zhu J, Aerbajinai W, Taylor JG, Rodgers GP, Single nucleotide polymorphisms in coding regions in sickle cell disease and their potential miRNA binding sites., EJHaem, 3(4), 1438-1441, 2022
Created on 2019-12-12 12:41:29, Last reviewed on 2023-07-04 16:36:47 (Show full history)

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