This page is part of the FHIR Specification (v3.2.0: R4 Ballot 1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3
Clinical Genomics Work Group | Maturity Level: N/A | Ballot Status: Informative | Compartments: Not linked to any defined compartments |
Example of a TPMT SNP data that support a haplotype observation (id = "example-TPMT-one")
<Sequence xmlns="http://hl7.org/fhir"> <id value="example-TPMT-one"/> <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative with Details</b> </p> <p> <b> id</b> : example-TPMT-one</p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 1</p> <p> <b> patient</b> : <a> Patient/example</a> </p> <h3> ReferenceSeqs</h3> <table> <tr> <td> -</td> <td> <b> ReferenceSeqId</b> </td> <td> <b> Strand</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> NT_007592.15 <span> (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NT_007592.15' = 'NT_007592.15)</span> </td> <td> 1</td> <td> 18130918</td> <td> 18143955</td> </tr> </table> <h3> Variants</h3> <table> <tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ObservedAllele</b> </td> <td> <b> ReferenceAllele</b> </td> </tr> <tr> <td> *</td> <td> 18139214</td> <td> 18139214</td> <td> A</td> <td> G</td> </tr> </table> <p> <b> observedSeq</b> : T-C-C-C-A-C-C-C</p> </div> </text> <type value="dna"/> <coordinateSystem value="1"/> <patient> <reference value="Patient/example"/> </patient> <referenceSeq> <referenceSeqId> <coding> <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> <code value="NT_007592.15"/> </coding> </referenceSeqId> <strand value="1"/> <windowStart value="18130918"/> <windowEnd value="18143955"/> </referenceSeq> <variant> <start value="18139214"/> <end value="18139214"/> <observedAllele value="A"/> <referenceAllele value="G"/> </variant> <observedSeq value="T-C-C-C-A-C-C-C"/> </Sequence>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.