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)
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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