Data collection: HGMD

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
Root URL http://identifiers.org/hgmd/
Root URN urn:miriam:hgmd:

Physical locations (resources)

Resource
MIR:00100512
Description HGMD at Cardiff University
Access URL http://www.hgmd.cf.ac.uk/ac/gene.php?gene=$id  [Example: CALM1]
Institution Cardiff University, Cardiff, Wales
Website http://www.hgmd.cf.ac.uk/ac/index.php

References