This database is maintained by D.N. Cooper, E.V. Ball, P.D. Stenson, A.D. Phillips, K. Howells and M.E. Mort with the assistance of N.S.T. Thomas.

*Please note that this less up-to-date public version of our database is freely available only to registered users from academic institutions/non-profit organisations. All commercial users are required to purchase a license from BIOBASE, our commercial partner. A license to HGMD Professional is available to both commercial and academic/non-profit users wishing to access the most up-to-date version of the database (see example HGMD Professional entry). Read more about how HGMD is funded.

Table:	Description:	Public entries: This site. Academic/non-profit users only	Total entries: HGMD Professional 2009.3
Mutation totals (as of 2009-11-25)		67022	93347
Gene symbol	The gene description, gene symbol (as recommended by the HUGO Nomenclature Committee) and chromosomal location is recorded for each gene. In cases where a gene symbol has not yet been made official, a provisional symbol has been adopted which is denoted by lower-case letters.	2473	3526
cDNA sequence	cDNA sequences are presented numbered by codon.

Missense/nonsense	Single base-pair substitutions in coding regions are presented in terms of a triplet change with an additional flanking base included if the mutated base lies in either the first or third position in the triplet.	38275	52591
Splicing	Mutations with consequences for mRNA splicing are presented in brief with information specifying the relative position of the lesion with respect to a numbered intron donor or acceptor splice site. Positions given as positive integers refer to a 3' (downstream) location, negative integers refer to a 5' (upstream) location.	6395	9015
Regulatory	Substitutions causing regulatory abnormalities are logged in with thirty nucleotides flanking the site of the mutation on both sides. The location of the mutation relative to the transcriptional initiation site, initiaton codon, polyadenylation site or termination codon is given.	912	1610
Small deletions	Micro-deletions (20 bp or less) are presented in terms of the deleted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).	10935	14701
Small insertions	Micro-insertions (20 bp or less) are presented in terms of the inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).	4403	6049
Small indels	Micro-indels (20 bp or less) are presented in terms of the deleted/inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).	982	1371
Gross deletions	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	3772	5705
Gross insertions	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	679	1154
Complex rearrangements	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	511	870
Repeat variations	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	158	281

9650 hits on this page since June 2005.