Rsrc
J-GLOBAL ID：202010015184595280
Research Resource code：NBDC02479
Update date：Nov. 05, 2019
HmtVar
HmtVar
Owning Organization：
Resource classification：
Data,Database
Tag (subject) (4)：
DNA
, Genetic variation
, Cell/Organelle
, Health/Disease
Tag (data type) (4)：
Expression
, Sequence
, Phenotype
, Interaction/Pathway
Species (1)：
Homo sapiens (NCBI Taxonomy ID: 9606)
Overview：
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.
Source：
NBDC
Record maintainer：
Integbio Database Catalog
Record license：
Creative Commons CC0 license
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