HGMD introduction - HGMD, CardiffThe Human Gene Mutation Database
at the Institute of Medical Genetics in Cardiff
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Table:Description: Public entries:
This site. Academic/non-profit users only		Total entries:
HGMD Professional 2012.1
Mutation totals (as of 2012-05-20)88745123656
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.33834631
cDNA sequencecDNA reference sequences are provided, numbered by codon.32904454
Genomic coordinatesGenomic (chromosomal) coordinates have been calculated for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. 0109708
HGVS nomenclatureStandard HGVS nomenclature has been obtained for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. 0110236

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.5012968773
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.848111525
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.14632355
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 (^).1414019267
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 (^).57907923
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 (^).12941847
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.53448472
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.10611893
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.7751210
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.268391

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