Gene:
COL6A1
collagen, type VI, alpha 1

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

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.

? = Mouse-over for quick help

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA26727

Details

Cytogenetic Location: chr21 : q22.3 - q22.3
GP mRNA Boundary: chr21 : 47401663 - 47424963
GP Gene Boundary: chr21 : 47391663 - 47427963
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
Malignant Hyperthermia

Publications related to COL6A1: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort. Clinical genetics. 2014. Broman M, et al. PubMed

LinkOuts

NCBI Gene:
1291
OMIM:
120220
158810
254090
602475
UCSC Genome Browser:
NM_001848
RefSeq RNA:
NM_001848
RefSeq Protein:
NP_001839
RefSeq DNA:
NG_008674
NT_011515
UniProtKB:
CO6A1_HUMAN (P12109)
Ensembl:
ENSG00000142156
GenAtlas:
COL6A1
GeneCard:
COL6A1
MutDB:
COL6A1
ALFRED:
LO037657C
HuGE:
COL6A1
Comparative Toxicogenomics Database:
1291
ModBase:
P12109
HumanCyc Gene:
HS06896
HGNC:
2211

Common Searches