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<?xml version="1.0" encoding="UTF-8"?>
<?oxygen RNGSchema="file:../cafe_variome.rnc" type="compact"?>
<?xml-model href="../cafe_variome_validator.sch" type="application/xml" schematypens="http://purl.oclc.org/dsdl/schematron"?>
<cafe_variome xmlns="http://varioml.org/xml/1.0">
<source id="leicester_lab">
<name>leicester_lab</name>
<url>http://www.le.ac.uk/genetics</url>
<contact>
<name>Owen Lancaster</name>
<email>ol8@leicester.ac.uk</email>
</contact>
</source>
<variant type="DNA">
<gene source="hgnc.symbol" accession="COL1A1"/>
<ref_seq source="refseq" accession="NG_007400.1"/>
<name scheme="HGVS">c.579delT</name>
<panel>
<individual>
<gender code="1"></gender>
</individual>
</panel>
<pathogenicity term="pathogenic" scope="family">
<phenotype term="Osteogenesis Imperfecta"/>
<evidence_code term="curator inference" accession="ECO:0000205" source="obo.eco"/>
</pathogenicity>
<variant_detection technique="CMC" template="DNA">
</variant_detection>
<genetic_origin term="paternal">
<evidence_code term="inferred"/>
</genetic_origin>
<sharing_policy type="embargoedAccess">
<embargo_end_date>2012-12-12</embargo_end_date>
<use_permission accession="CC0" uri="http://creativecommons.org/publicdomain/zero/1.0/"
term="Creative commons"/>
</sharing_policy>
<comment>
<text>Variant inherited from affected father</text>
</comment>
</variant>
</cafe_variome>