Rekord LOINC: 81262-8
Tylko wersja angielska TRIAL
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
81262-8
FHIR
|
| Long Common Name: | Complex variant HGVS name |
| Short Name: | Comp var HGVS name |
| Status: | TRIAL |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
Complex variant HGVS name
:
Find
:
Pt
:
^Patient
:
Nom
:
-
Klasyfikacja
| Class: |
ENMOLPATH
|
| Consumer Name: | - |
| Order/Observation: | Observation |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | - |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.56 |
Definicja i opis
EN
This term is used to report the name of the complex variant found in this study in HGVS format. For example, c.[886C>T;457G>C], which represents two separate base substitutions in one gene on one chromosome, or c.[886C>T];[457G>C], which represents two separate base substitutions in one gene on two different chromosomes.
Powiązane nazwy
Comp var; Comp var HGVS name; Compx; Finding; Findings; Molecular pathology; MOLPATH; Nominal; Point in time; Random