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    The description :the human gene mutation database at the institute of medical genetics in cardiff home search help statistics new genes what is new background publications contact register login lsdbs other links gene...

    This report updates in 14-Jun-2018

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the human gene mutation database at the institute of medical genetics in cardiff home search help statistics new genes what is new background publications contact register login lsdbs other links gene symbol gene description omim number disease/phenotype symbol: missense/nonsense splice regulatory small deletions small insertions small indels gross deletions gross insertions complex rearrangements repeat variations the human gene mutation database ( hgmd® ) represents an attempt to collate all 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, l. azevedo, m.e. mort and m. hussain. *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 .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 2018.1 mutation totals (as of 2018-06-14) 157131 224642 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. 6480 8784 cdna sequence cdna reference sequences are provided, numbered by codon. 6471 8848 genomic coordinates genomic (chromosomal) coordinates have been calculated for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. 0 199696 hgvs nomenclature standard hgvs nomenclature has been obtained for missense/nonsense, splicing, regulatory, small deletions, small insertions and small indels. 0 200177 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. 87391 127200 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. 14329 20132 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. 3050 4029 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 (^). 23686 33090 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 (^). 9844 13864 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 (^). 2289 3088 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. 11705 16645 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. 2806 4117 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. 1576 1960 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. 455 517 7,241,527 queries successfully served since 2007. designed by p.d.stenson hgmd® copyright © cardiff university 2017

URL analysis for hgmd.org


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WHOIS LIMIT EXCEEDED - SEE WWW.PIR.ORG/WHOIS FOR DETAILS

  REFERRER http://www.pir.org/

  REGISTRAR Public Interest Registry

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  PORT 43

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DOMAIN

  NAME hgmd.org

NSERVER

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  NS1.1ANETWORKS.NET 212.36.99.1

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