Genetischer Kerndatensatz (Einfache Varianten)
- Birgit Siebrasse
Owned by Birgit Siebrasse
Apr 05, 2022
1 min read
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| FHIR Variant Reporting Attribut | Beschreibung | Beispiel | ||
|---|---|---|---|---|
| Chr | exact-start-end | Chromosome | chr12 | |
| Start | Start Position | 25398284 | ||
| End | End Position | 25398284 | ||
| Ref | ref-allele.code | Reference Allele | C | |
| Alt | alt-allele.code | Alternativ Allele | A | |
| Func.refGene (Name)/genecode19 | is necessary (no entry in FHIR) | genomic function | exonic | |
| Gene.refGene (Name) | gene-studied | HUGO Symbol | KRAS | |
| Gene ID | ENSEMBL ID | ENSG00000133703 | ||
| GeneName (Name) | Gene Name | KRAS proto-oncogene, GTPase | ||
| ExonicFunc.refGene (Name) | functional-annotation | Variant Classification | Missense_Mutation | |
| cDNAChange HGVS.c | dna-chg | HGVSc | c.35G>T | |
| protein Change HGVS.p | amino-acid-chg | HGVSp | p.G12V | |
| snp + Version | dbSNP-id | dbSNP | rs121913529 | |
| gnomAD_exome + Populationen + Version | TODO (PopulationFrequency) | Population Frequency | 4.01E-06 | |
| Variant_Allele_Frequency | sample-allelic-frequency.code | Variant_Allele_Frequency | 0.26 | |
| Read Depth (Tumor; Normal) | allelic-read-depth.code | Read Depth (Ref; Alt) | 100; 36 | |
| cosmic84_coding + Version | cosmicidentifier | COSMIC ID | COSV55497419 | |
| CLINSIGClinvar + Version | clinvarinterpretation | CLINSIG Interpretation | pathogenic |