IthaID: 2683

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs449853	HGVS Name:	NC_000006.12:g.7872119C>T

Context nucleotide sequence:
AGAGAGGTAACACAGCTTTGCCCCA [A/G] TGGATTCACCAGTCAAGGGCAGGGC (Strand: -)

Also known as:

Comments: SNP associated with osteonecrosis (442 cases; 455 controls) and bacteraemia (145 cases; 1248 controls) in the Cooperative Study of Sickle Cell Disease (CSSCD). SNP associated with risk of stroke in the CSSCD (92 cases; 1306 controls) [PMID: 15778708], but the association was not replicated in an independent sample of pediatric sickle cell disease patients acquired from the Stroke With Transfusion Changing to Hydrxyurea (SWiTCH) trial (130 cases; 103 controls enrolled from the HUSTLE study) [PMID: 21515823].

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:	Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805] Stroke [HP:0001297] [OMIM:601367] Bacteremia [HP:0031864]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	6
Locus:
Locus Location:	N/A
Size:	1 bp
Located at:	BMP6
Specific Location:	Intron 4

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

Sequence Viewer

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Publications / Origin

Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005 PubMed
Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH, Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia., Nat. Genet. , 37(4), 435-40, 2005 PubMed
Adewoye AH, Nolan VG, Ma Q, Baldwin C, Wyszynski DF, Farrell JJ, Farrer LA, Steinberg MH, Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia., Clin. Infect. Dis. , 43(5), 593-8, 2006 PubMed
Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed

Created on 2016-05-11 17:47:53, Last reviewed on 2019-07-03 14:43:43 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-05-11 17:47:53	The IthaGenes Curation Team	Created
2	2016-05-16 12:26:15	The IthaGenes Curation Team	Reviewed.
3	2019-07-03 14:43:43	The IthaGenes Curation Team	Reviewed. Phenotype added.

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