HGMD introduction - HGMD, CardiffThe Human Gene Mutation Database
at the Institute of Medical Genetics in Cardiff
Copyright © Cardiff University 2011. All rights reserved		HGMD introduction - BioBase
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Table:Description: Public entries:
This site. Academic/non-profit users only		Total entries:
HGMD Professional 2011.4
Mutation totals (as of 2012-02-06)85840120004
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.32534411
cDNA sequencecDNA reference sequences are provided, numbered by codon.31954320
Genomic coordinatesGenomic (chromosomal) coordinates have been calculated for missense/nonsense, splicing (release 2011.3), regulatory, small deletions, small insertions and small indels. 0106621
HGVS nomenclatureStandard HGVS nomenclature has been obtained for missense/nonsense, splicing (release 2011.3), regulatory, small deletions, small insertions and small indels. 0107178

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.4863366902
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.813111220
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.13952245
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 (^).1368018799
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 (^).55997719
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 (^).12431783
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.51618032
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.10011757
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.7371170
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.260377

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