Gene:
SYNGAP1
synaptic Ras GTPase activating protein 1

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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Overview

Alternate Names:  None
Alternate Symbols:  KIAA1938; RASA5; SYNGAP
PharmGKB Accession Id: PA36279

Details

Cytogenetic Location: chr6 : p21.32 - p21.32
GP mRNA Boundary: chr6 : 33387847 - 33421466
GP Gene Boundary: chr6 : 33377847 - 33424466
Strand: plus

Visualization

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.
No related genes are available

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Autism Spectrum Disorder

Publications related to SYNGAP1: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010. Pinto Dalila, et al. PubMed

LinkOuts

NCBI Gene:
8831
OMIM:
603384
612621
RefSeq RNA:
NM_006772
RefSeq Protein:
NP_006763
RefSeq DNA:
NG_016137
NT_007592
NT_167249
UniProtKB:
SYGP1_HUMAN (Q96PV0)
Ensembl:
ENSG00000197283
ENSG00000227460
GenAtlas:
SYNGAP1
GeneCard:
SYNGAP1
MutDB:
SYNGAP1
ALFRED:
LO344619B
HuGE:
SYNGAP1
ModBase:
Q96PV0
HGNC:
11497

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