Rekord LOINC: 81252-9
Tylko wersja angielska TRIAL
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
81252-9
FHIR
|
| Long Common Name: | Discrete genetic variant |
| Short Name: | Simple var ID |
| Status: | TRIAL |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
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
This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Powiązane nazwy
Ident; Identifier; Molecular pathology; MOLPATH; Nominal; Point in time; Random