Inactive
(Over 14 days)
(Over 14 days)
HmtVar
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University of Bari | |
Italy | |
HmtVar is a manually-curated database for variability and pathogenicity information about human mtDNA. It collects variation data from HmtDB (https://www.hmtdb.uniba.it), which originally from GenBank, and which are found in complete genome of human mitochondrion in individuals with apparently healthy phenotype and with disease phenotypes. The rCRS (revised Cambridge Reference Sequence) was used to determine those variants. Each entry contains basic information of variations, pathogenicity predictions and links to external resources. The raw data for each variant is downloadable. | |
DNA, Genetic variation, Cell/Organelle, Health/Disease | |
Expression, Sequence, Phenotype, Interaction/Pathway | |
PubMed ID: DOI: | |
English | |
Inactive | |
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https://www.hmtvar.uniba.it/about | |
https://www.hmtvar.uniba.it/contacts | |
https://www.hmtvar.uniba.it/apis |
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HACER PhenoModifier SNPeffect DisGeNET Leiden Open Variation Database OncoBase iDog ncRNA-eQTL DPV Nuclear Receptor Signaling Atlas |
Integbio Database Catalog | |
2019-11-05 | |
2019-11-05 | |
Creative Commons CC0 license |