IthaID: 2138


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: IVS X-1549 A>G HGVS Name: NG_011994.1:g.333995G>A

Context nucleotide sequence:
GGCATCTCAGATCCAGACCAGTGTGA [A/G] GCAAGTCAAGAAGGCCCTAATTTAG (Strand: +)

Also known as: rs487278

Comments: Associated with the HbF response to hydroxyurea (HU) in SCD patients

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 response to hydroxyurea

Location

Chromosome: 6
Locus: NG_011994.1
Locus Location: 333995
Size: 1 bp
Located at: PDE7B
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African Americans
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007
Created on 2013-09-27 09:57:39, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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