Rekord LOINC: 81256-0
Tylko wersja angielska TRIAL
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
81256-0
FHIR
|
| Long Common Name: | COSMIC [ID] |
| Short Name: | COSMIC simple var ID |
| Status: | TRIAL |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
COSMIC simple variant
:
ID
:
Pt
:
^Patient
:
Nom
:
-
Klasyfikacja
| Class: |
ENMOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Observation |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | - |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.58 |
Definicja i opis
EN
The COSMIC ID is used to report the variant ID for the COSMIC database, which collects information about somatic cancer-related, non-structural mutations. Information in the COSMIC database includes an ID for the tissue source of the submission, a gene name, a reference sequence from Ensembl, pathogenicity, and HGVS names. For example, the COSMIC Mutation ID COSM34090 is for a missense mutation in the IDH2 gene with HGVS nomenclature c.516G>T and p.R172S. [http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=34090]
Powiązane nazwy
Ident; Identifier; Molecular pathology; MOLPATH; Nominal; Point in time; Random