The ValidSpliceMut database has been ported to ClinVar at the NIH’s National Center for Biotechnology Information (NCBI) based on their recently released functional evidence specification. Nearly all validated variants have been converted to HGVS mRNA notation and, where possible, use MANE database accession numbers for representing gene transcripts.<\/p>\n
For example, this variant\u00a0in ValidspliceMut (link<\/a>) is now indicated as functional data entry as\u00a0 abnormal due to retained intron sequences in ClinVar (link<\/a>, see bottom of entry).<\/p>\n","protected":false},"excerpt":{"rendered":" The ValidSpliceMut database has been ported to ClinVar at the NIH’s National Center for Biotechnology Information (NCBI) based on their recently released functional evidence specification. Nearly all validated variants have been converted to HGVS mRNA notation and, where possible, use MANE database accession numbers for representing gene transcripts. For example, this variant\u00a0in ValidspliceMut (link) is […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[6],"tags":[],"_links":{"self":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/5151"}],"collection":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=5151"}],"version-history":[{"count":4,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/5151\/revisions"}],"predecessor-version":[{"id":5158,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=\/wp\/v2\/posts\/5151\/revisions\/5158"}],"wp:attachment":[{"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=5151"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=5151"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.cytognomix.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=5151"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}