IthaID: 2631


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs16971033 HGVS Name: NG_032674.1:g.49520T>C

Context nucleotide sequence:
GACGGACAGCTGAGGAAGTGACATC [A/G] GTGAAAGCCACAGGGGCCAAGCGTG (Strand: +)

Also known as:

Comments: SNP associated with elevated HbF in African Americans with sickle cell disease, recruited from the Cooperative Study of Sickle Cell Disease (CSSCD), the Comprehensive Sickle Cell Centers Collaborative Data (CDATA) study and the Thomas Jefferson University (n=244).

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: 17
Locus: NG_032674.1
Locus Location: 49520
Size: 1 bp
Located at: EFTUD2
Specific Location: Intron 20

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. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016
Created on 2016-05-10 14:35:44, Last reviewed on 2016-05-16 13:05:51 (Show full history)

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