IthaID: 3207


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs76056952 HGVS Name: NG_033236.1:g.77856G>C

Context nucleotide sequence:
GGGAGCTGACGATTCTTGACACATC [C/G] TGGTGGGGAAAGGGGCCATAAGCCA (Strand: +)

Also known as:

Comments: SNP associated with protection against elevated glomerular filtration rate in SCA pediatric patients enrolled from the HUSTLE (Hydroxyurea Study of Long-term Effects) and TWiTCH (TCD With Transfusions Changing to Hydroxyurea) clinical trials.

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: Abnormal GFR [HP:0012212]

Location

Chromosome: 16
Locus: NG_033236.1
Locus Location: 77856
Size: 1 bp
Located at: PKD1L2
Specific Location: Intron 29

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016
Created on 2017-03-20 16:27:46, Last reviewed on (Show full history)

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