Data collection: HGMD

disease gene human

General information

Recommended name HGMD Collection has restriction(s) logo
Alternative name(s)
  • Human Gene Mutation Database
Description The Human Gene Mutation Database (HGMD) collates data on germ-line mutations in nuclear genes associated with human inherited disease. It includes information on single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation entry is unique, and includes cDNA reference sequences for most genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases.
Identifier pattern^[A-Z_0-9]+$
Registry identifierMIR:00000392

Identification schemes

Namespace hgmd
Alternative URI schemes  

Physical locations (resources)

Description HGMD at Cardiff University
Access URLs HTML   (using the example identifier: CALM1)
Institution Cardiff University, Cardiff, Wales