Usher syndrome 2A (autosomal recessive, mild)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

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The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for USH2A

Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
No VIP available No Clinical Annotations available VA
rs12126638 216175696T>C, 426043A>G, 6326-1792A>G, 9693475T>C
T > C
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 144


Alternate Names:  USH2; usherin
Alternate Symbols:  RP39
PharmGKB Accession Id: PA37228


Cytogenetic Location: chr1 : q41 - q41
GP mRNA Boundary: chr1 : 215796236 - 216596738
GP Gene Boundary: chr1 : 215793236 - 216606738
Strand: minus


UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Publications related to USH2A: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genome-wide association study of smoking initiation and current smoking. American journal of human genetics. 2009. Vink Jacqueline M, et al. PubMed


USH2A_HUMAN (O75445)
Comparative Toxicogenomics Database:
HumanCyc Gene:

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