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This page is now frozen. No new data will be added. No further corrections will be made.
The PLOD1 mutation data have been added to a new database.
| General information |
| Gene name |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
| Gene symbol |
PLOD1 |
| Chromosome Location |
1p36.22 |
| Database location |
Dalgleish Laboratory, Department of Genetics, University of Leicester, UK |
| Curator |
Wei Kheng Teh and Raymond Dalgleish |
| PubMed references |
View all (unique) PubMed references in the PLOD1 database |
| Date of creation |
November 08, 2010 |
| Last update |
September 22, 2020 |
| Version |
PLOD1 200922 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
Genomic reference sequence for describing sequence variants |
| Genomic refseq ID |
NG_008159.1 |
| Transcript refseq ID |
NM_000302.3 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
56 |
| Total number of individuals with variant(s) |
86 |
| Total number of variants reported |
156 |
| Subscribe to updates of this gene |
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| NOTE |
The work leading to the establishment of this LSDB was supported by the European Commission's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project. |
| Search the database |
| By type of variant |
View all sequence variants of a certain type |
| Simple search |
Query the database by selecting the most important variables (exon number, type of variant, disease phenotype) |
| Advanced search |
Query the database by selecting a combination of variables |
| Based on patient origin |
View all variants based on your patient origin search terms |
| Copyright & disclaimer |
All contents of this database are protected by local and international copyright laws. The
information is submitted for the purpose of sharing genetic and clinical information. Genetic variants
listed may or may not have a causal association with disease phenotypes, irrespective of stated
classifications or other information presented in the database. All information in this database,
including variant classifications, is subject to change and there is no warranty, express or implied, as
to its accuracy, completeness, or fitness for a particular purpose. Use of this database and
information is subject to User responsibility and discretion. Clinical decisions regarding individual
patient care should be carried out in conjunction with a healthcare professional with expertise in the
relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred
by use of or reliance on the information provided by this database.
Database submitters are required to adhere to their institution's rules for data sharing, and local and
national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and
edit their data. Database curators may curate data to ensure that database formatting and quality
standards are met. They may also share submitted data with external parties for research purposes
or for sharing with other databases. |
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