IthaID: 2907


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs559046 HGVS Name: NG_029954.1:g.68394A>G

Context nucleotide sequence:
AAGCTGCAGGGGAGGAAAAAAGTCC [C/T] TTCCTCTTTGTCCACGACTGACTCT (Strand: -)

Also known as:

Comments: SNP associated with pulmonary hypertension in individuals with sickle cell disease (59 cases; 107 controls).

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: Pulmonary arterial hypertension [HP:0002092] [OMIM:265400]

Location

Chromosome: 18
Locus: NG_029954.1
Locus Location: 68394
Size: 1 bp
Located at: NEDD4L
Specific Location: Intron 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010
Created on 2016-05-23 15:04:12, Last reviewed on (Show full history)

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