IthaID: 3152



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs62573842 HGVS Name: NC_000009.12:g.32264314A>G

Context nucleotide sequence:
CTGCAGCTCACAATCCAATGCCCAG [A/G] GCAAACCATGCCCTGGAACACACAC (Strand: +)

Also known as:

Comments: Intergenic variant, located downstream of a non-coding RNA molecule [LOC107987059]. Associated with HbF levels in individuals with sickle cell anaemia in Tanzania (n=1213).

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: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 9
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: HMGB3P23-RNA5SP281
Specific Location: N/A

Other details

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

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

  1. Mtatiro SN, Singh T, Rooks H, Mgaya J, Mariki H, Soka D, Mmbando B, Msaki E, Kolder I, Thein SL, Menzel S, Cox SE, Makani J, Barrett JC, Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania., PLoS ONE , 9(11), e111464, 2014 PubMed
Created on 2017-01-30 13:25:11, Last reviewed on 2020-10-06 11:03:37 (Show full history)

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