HGMD®

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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.

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Table: Description: Public entries:
This site. Academic/non-profit users only Total entries:
HGMD Professional 2010.2
Mutation totals (as of 2010-07-29) 74218 102433
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. 2817 3804
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. 42317 57570
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. 7145 9791
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. 1086 1819
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 (^). 11986 16080
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 (^). 4837 6624
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 (^). 1085 1511
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. 4227 6403
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. 783 1338
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. 571 982
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. 181 315

1618707 hits on this page since June 2005.

Table:	Description:	Public entries: This site. Academic/non-profit users only	Total entries: HGMD Professional 2010.2
Mutation totals (as of 2010-07-29)		74218	102433
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.	2817	3804
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.	42317	57570
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.	7145	9791
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.	1086	1819
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 (^).	11986	16080
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 (^).	4837	6624
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 (^).	1085	1511
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.	4227	6403
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.	783	1338
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.	571	982
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.	181	315