Variant:

rs5030655 at chr22:42525086 in CYP2D6 (VIP)

Clinical Annotations

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Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

There are 4 annotations for this variant. Register or sign in to see them.

There are 1 disease-related annotations for this variant. Register or sign in to see them.

VIP Variant in CYP2D6

CYP2D6 1707 del T (also seen as 1795 del T in the literature) causes a frameshift mutation that results in a truncated, non-functional version of CYP2D6. CYP2D6 1707 del T is diagnostic for the non-functional haplotype CYP2D6*6 [Article:10634130], which makes up a small portion of PMs in Caucasian populations. A cDNA expressing this variant was first cloned by Evert et al [Article:7894499], and others have identified this mutation among a subset of PMs [Articles:7951238, 7868129].

Note: The CYP2D6 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.

Publications related to rs5030655 at chr22:42525086: 7

CA VA	Impact of the CYP2D6 genotype on the clinical effects of metoprolol: a prospective longitudinal study. Clinical pharmacology and therapeutics. 2009. Rau T, et al. [Article:19037197@PubMed]
VA	Cyp2d6*3, *4, *5 and *6 polymorphisms and antipsychotic-induced extrapyramidal side-effects in patients receiving antipsychotic therapy. Clinical and experimental pharmacology & physiology. 2008. Crescenti Anna, et al. [Article:18346175@PubMed]
CA VA	CYP2D6 polymorphism and clinical effect of the antidepressant venlafaxine. Journal of clinical pharmacy and therapeutics. 2006. Shams M E E, et al. [Article:16958828@PubMed]
VIP	Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data. Pharmacogenetics. 1999. Gaedigk A, et al. [Article:10634130@PubMed]
VIP	An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution. Human genetics. 1995. Daly A K, et al. [Article:7868129@PubMed]
VIP	Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype. Human molecular genetics. 1994. Saxena R, et al. [Article:7951238@PubMed]
VIP	Cloning and sequencing of a new non-functional CYP2D6 allele: deletion of T1795 in exon 3 generates a premature stop codon. Pharmacogenetics. 1994. Evert B, et al. [Article:7894499@PubMed]

Cross-References

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