Rsrc
J-GLOBAL ID:201410069614196567
Research Resource code:NBDC00097
Update date:Mar. 12, 2018
HGMD: The Human Gene Mutation Database
HGMD: The Human Gene Mutation Database
Owning Organization:
-
Institute of Medical Genetics in Cardiff
Resource classification:
Data,Database
Tag (subject) (3):
Genome/Gene
, cDNA/EST
, Health/Disease
Tag (data type) (1):
Sequence
Species (1):
Homo sapiens (NCBI Taxonomy ID: 9606)
Overview:
HGMD is a integrated database of germ-line mutations which are underlying or associated with human inherited disease in nuclear genes. This database contains all germ-line disease-causing mutations and disease-associated/functional polymorphisms reported in the literature. Furthermore, it includes the data about single base-pair substitutions in coding (e.g. missense and nonsense), regulatory and splicing-relevant regions of human nuclear genes, micro-deletions and micro-insertions, indels, repeat expansions, as well as gross gene lesions (deletions, insertions and duplications) and complex gene rearrangements. These data are provided in a readily accessible format to all interested parties, whether they are from an academic, clinical or commercial background.
Source:
NBDC
Record maintainer:
Integbio Database Catalog
Record license:
Creative Commons CC0 license
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