IthaID: 3219


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs557939075 HGVS Name: NG_009929.2:g.459084_459085insA

Context nucleotide sequence:
TGTTGCCTTCTAATGCCCATCACTG [-/T] TTTTTTTTTCTTGCTTTTTCTCTTG (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: 22
Locus: NG_009929.2
Locus Location: 459084
Size: 1 bp
Located at: LARGE1
Specific Location: Intron 7

Other details

Type of Mutation: Point-Mutation(Insertion)
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 00:04:12, Last reviewed on (Show full history)

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