IthaID: 2938

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs7208480	HGVS Name:	NC_000017.11:g.15770470C>T

Context nucleotide sequence:
TGTTAGTGGGAGTAGCAATCTTGAA [C/T] GCATTTTGGGCCAGTTTGAAGATGA (Strand: +)

Also known as:

Comments: Quantitative trait locus upstream of the ADORA2B gene associated with elevated tricuspid regurgitant jet velocity (TRV) in African Americans with sickle cell disease (49 cases; 63 controls). Elevated TRV has a positive predictive value for pulmonary hypertension.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Pulmonary arterial hypertension [HP:0002092] [OMIM:265400]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	17
Locus:	N/A
Locus Location:	N/A
Size:	1 bp
Located at:	ADORA2B
Specific Location:	N/A

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

Desai AA, Zhou T, Ahmad H, Zhang W, Mu W, Trevino S, Wade MS, Raghavachari N, Kato GJ, Peters-Lawrence MH, Thiruvoipati T, Turner K, Artz N, Huang Y, Patel AR, Yuan JX, Gordeuk VR, Lang RM, Garcia JG, Machado RF, A novel molecular signature for elevated tricuspid regurgitation velocity in sickle cell disease., Am. J. Respir. Crit. Care Med. , 186(4), 359-68, 2012
Wonkam A, Makani J, Ofori-Aquah S, Nnodu OE, Treadwell M, Royal C, Ohene-Frempong K, , Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients., Cardiovasc J Afr , 26(2), S50-5, 2015

Created on 2016-08-09 10:31:17, Last reviewed on 2016-08-09 10:56:57 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-08-09 10:31:17	The IthaGenes Curation Team	Created
2	2016-08-09 10:34:59	The IthaGenes Curation Team	Reviewed.
3	2016-08-09 10:55:03	The IthaGenes Curation Team	Reviewed.
4	2016-08-09 10:56:57	The IthaGenes Curation Team	Reviewed.

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