Gene:
USH2A
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.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

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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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

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.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs12126638 216175696T>C, 426043A>G, 6326-1792A>G, 9693475T>C
T > C
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

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

Details

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

LinkOuts

Entrez Gene:
7399
OMIM:
268000
276901
608400
UCSC Genome Browser:
NM_007123
RefSeq RNA:
NM_007123
NM_206933
RefSeq Protein:
NP_009054
NP_996816
RefSeq DNA:
AC_000044
AC_000133
NC_000001
NG_009497
NT_167186
NW_001838537
NW_926794
UniProtKB:
USH2A_HUMAN (O75445)
Ensembl:
ENSG00000042781
GenAtlas:
USH2A
GeneCard:
USH2A
MutDB:
USH2A
ALFRED:
LO002901M
HuGE:
USH2A
Comparative Toxicogenomics Database:
7399
ModBase:
O75445
HumanCyc Gene:
HS00563
HGNC:
12601

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