IthaID: 3136

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs2606345	HGVS Name:	NG_008431.1:g.7294C>A

Context nucleotide sequence:
GCTCCCTGCAGTTGGCAATCTGTCA [A/C] CCTGATTGTCTCCCAGCAAAGGACA (Strand: +)

Also known as:

Comments: SNP presented borderline association with deferasirox plasma levels in β-thalassaemia adult patients with transfusional iron overload. Patients with AA genotype had lower drug concentration and thus a higher risk for non-response.

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:	Response to deferasirox

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	15
Locus:	NG_008431.2
Locus Location:	7294
Size:	1 bp
Located at:	CYP1A1
Specific Location:	Intron 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Cusato J, Allegra S, Massano D, De Francia S, Piga A, D'Avolio A, Influence of single-nucleotide polymorphisms on deferasirox C trough levels and effectiveness., Pharmacogenomics J. , 15(3), 263-71, 2015 PubMed

Created on 2016-10-25 18:02:06, Last reviewed on 2016-10-26 09:27:22 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-10-25 18:02:06	The IthaGenes Curation Team	Created
2	2016-10-26 09:27:22	The IthaGenes Curation Team	Reviewed. Clinical phenotype section updated.

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