IthaID: 3122



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10421768 HGVS Name: NG_011563.1:g.4490A>G

Context nucleotide sequence:
AAGGGTCTGACACTGGGAAAACACC [A/G] CGTGCGGATCGGGCACACGCTGATG (Strand: +)

Also known as:

Comments: SNP (allele A) associated with higher haemoglobin concentration in the Kenyan population [PMID: 27332551]. Variant associated with higher liver iron concentration and serum ferritin levels in poly-transfused β-thalassaemia patients of Middle Eastern descend from Italy [PMID: 19734422]. Not associated with serum iron/transferrin/ferritin levels in the healthy Galician population [PMID: 21143959].

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Increased serum ferritin [HP:0003281]
Increased liver iron level [HP:0012465]
Anaemia [HP:0001903]

Location

Chromosome: 19
Locus: NG_011563.1
Locus Location: 4490
Size: 1 bp
Located at: HAMP
Specific Location: Intron 1

Other details

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

Sequence Viewer

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Publications / Origin

  1. Andreani M, Radio FC, Testi M, De Bernardo C, Troiano M, Majore S, Bertucci P, Polchi P, Rosati R, Grammatico P, Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major., Haematologica, 94(9), 1293-6, 2009 PubMed
  2. Parajes S, González-Quintela A, Campos J, Quinteiro C, Domínguez F, Loidi L, Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant., BMC Genet., 11(0), 110, 2010 PubMed
  3. 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 PubMed
Created on 2016-10-06 11:51:51, Last reviewed on 2019-07-03 23:14:54 (Show full history)

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