IthaID: 2114


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: IVS XII-9251 G>A HGVS Name: NG_007563.1:g.115072G>A

Context nucleotide sequence:
TACCAATGTATTGTTCTGTTTAAAAT [A/G] TGGAAACCTGAGGAAATGAACAAAG (Strand: +)

Also known as: rs12559632

Comments: Moderately strong association with F-cell levels

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for Aγ or Gγ
Associated Phenotypes: F-cell numbers

Location

Chromosome: X
Locus: NG_007563.1
Locus Location: 115072
Size: 1 bp
Located at: PHEX
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
Created on 2013-09-18 16:37:53, Last reviewed on 2019-07-03 11:05:03 (Show full history)

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