HGMD
The Human Gene Mutation Database

at the Institute of Medical Genetics in Cardiff

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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. Howells, S. Heywood and M.E. Mort.

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*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 (visit BIOBASE 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)

Table:Description:Public entries:
This site. Academic/non-profit users only
Total entries:
HGMD Professional 2013.4
Mutation totals (as of 2014-04-20)105417148413
Gene symbolThe 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.39536137
cDNA sequencecDNA reference sequences are provided, numbered by codon.38155911
Genomic coordinatesGenomic (chromosomal) coordinates have been calculated for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. 0130765
HGVS nomenclatureStandard HGVS nomenclature has been obtained for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. 0131396
Missense/nonsenseSingle 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.5916182176
SplicingMutations 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.994913641
RegulatorySubstitutions 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.18692884
Small deletionsMicro-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 (^).1657222610
Small insertionsMicro-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 (^).68359423
Small indelsMicro-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 (^).15512173
Gross deletionsInformation regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.672110968
Gross insertionsInformation regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.14152600
Complex rearrangementsInformation regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.10131504
Repeat variationsInformation regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.331434

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