IthaID: 3221


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs13080125 HGVS Name: NG_009227.1:g.82390T>C

Context nucleotide sequence:
GTGGCACAATCTCAGCTTACTGCAA [C/T] CTCTGCCTCCTGGATTCAAGGGATT (Strand: +)

Also known as:

Comments: SNP associated with HbF levels in African American Benin haplotype patients (sample taken from the Cooperative Study of Sickle Cell Disease (CSSCD)).

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: 3
Locus: NG_009227.1
Locus Location: 82390
Size: 1 bp
Located at: PAK2
Specific Location: Intron 11

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Shaikho EM, Farrell JJ, Alsultan A, Sebastiani P, Steinberg MH, Genetic Determinants of HbF in Saudi Arabian and African Benin Haplotype Sickle Cell Anemia., Am. J. Hematol. , 2017
Created on 2017-07-10 01:18:04, Last reviewed on (Show full history)

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