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 1 annotations for this variant. Register or sign in to see them.
VIP Variant in KCNH2
Note: The KCNH2 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.
This mutation may be responsible for response to amiodarone [Article:11997281].
| Drugs / Other Molecules |
Drug (1)
|
|---|---|
| Diseases | Acquired Long QT Syndrome (aLQTS) |
Appendix
| Genomic Variant & GenBank ID: | 11223319 G>A on NT_007914.14 |
|---|---|
| mRNA Variant & GenBank ID: | 1330 C>T on NM_172057.1 |
| Protein Variant & GenBank ID: | R784W on NP_742053.1 |
| DNA Source Containing *Homozygous Reference* *Allele(Coriell Lines):* | CC Sample PA126745237 (GM15224) |
| DNA Source Containing *Heterozygous Reference* *Allele* (Coriell Lines): | CT Sample PA126751711 (no public resource listed) |
| DNA Source Containing *Homozygous Reference* *Minor Allele* (Coriell Lines): | not found in PharmGKB |
Connected Diseases
| Evidence | Disease |
|---|---|
| Acquired Long QT Syndrome (aLQTS) | |
| Torsades de Pointes |
Publications related to rs12720441 at chr7:150647304: 1
| Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002. Yang Ping, et al. [Article:11997281@PubMed] |
Cross-References
- UCSC Golden Path:
- chr7:150647304
- dbSNP:
- rs12720441
- HapMap:
- rs12720441