IthaID: 3153


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs6590706 HGVS Name: NG_012107.1:g.72498C>T

Context nucleotide sequence:
ACACTAGAGTGAGCATGGTATGTCT [A/G] TTCATTACCTGTGGTTGCTGTGCCA (Strand: +)

Also known as:

Comments: SNP 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: 11
Locus: NG_012107.1
Locus Location: 72498
Size: 1 bp
Located at: OPCML
Specific Location: Intron 1

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

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
Created on 2017-01-30 13:48:58, Last reviewed on (Show full history)

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