The Human Gene Mutation Database (HGMD®) represents an attempt to collate known (published) gene lesions responsible for human inherited disease. and is maintained in Cardiff by D.N. Cooper, E.V. Ball, P.D. Stenson, A.D. Phillips, K. Evans, S. Heywood, M.J. Hayden, J. Shiel, S. Beynon AND M.E Mort.
*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 QIAGEN®, 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 (visit QIAGEN® to request a free trial of HGMD Professional). Read more about how HGMD is funded. BBC reports recent study utilising 1000 Genomes and HGMD data (BBC news). You may not copy, store or re-distribute HGMD data without express written permission (i) from the curators or (ii) via your license agreement. Copyright © Cardiff University 2017. All rights reserved.
| Table: | Description: | Public entries: This site. Academic/non-profit users only | Total entries: HGMD Professional 2023.4 |
|---|---|---|---|
| Mutation totals (as of 2024-11-19) | 291329 | 510804 | |
| 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. | 11345 | 17601 |
| cDNA sequence | cDNA reference sequences are provided, numbered by codon. | 11603 | 18754 |
| Genomic coordinates | Genomic (chromosomal) coordinates have been calculated for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. | 0 | 474280 |
| HGVS nomenclature | Standard HGVS nomenclature has been obtained for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. | 0 | 474709 |
| 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. | 169205 | 319190 |
| 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. | 25088 | 42559 |
| 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. | 4749 | 6953 |
| 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 (^). | 41994 | 67065 |
| 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 (^). | 17867 | 29310 |
| 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 (^). | 3834 | 5416 |
| 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. | 20496 | 29079 |
| 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. | 5224 | 7580 |
| 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. | 2299 | 2950 |
| 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. | 573 | 702 |
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