IthaID: 3097


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1867504 HGVS Name: NG_008673.3:g.196A>G

Context nucleotide sequence:
CTTAAGCCCATCGTGGTAGAAATCT [A/G] TGGGTCAAAAGATGGTGTGTTCTCC (Strand: +)

Also known as:

Comments: SNP (allele A) associated with increased haemoglobin and serum ferritin concentrations in African ancestry populations.

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: Increased serum ferritin [HP:0003281]
Anaemia [HP:0001903]

Location

Chromosome: 3
Locus: NG_013080.1
Locus Location: 196
Size: 1 bp
Located at: TF
Specific Location: Intron

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Gichohi-Wainaina WN, Tanaka T, Towers GW, Verhoef H, Veenemans J, Talsma EF, Harryvan J, Boekschoten MV, Feskens EJ, Melse-Boonstra A, Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry., PLoS ONE , 11(6), e0157996, 2016
Created on 2016-09-14 18:08:51, Last reviewed on 2019-07-03 23:29:25 (Show full history)

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