Rekord LOINC: 81253-7
Tylko wersja angielska TRIAL
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
81253-7
FHIR
|
| Long Common Name: | Simple variant name Nominal |
| Short Name: | Simple var name |
| Status: | TRIAL |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
Simple variant 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 formal name of a simple variant, including the reference sequence and nucleotide change. For example, NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) represents an ACAD9 gene variant with nucleotide change c.1249C>T and protein change p.Arg417Cys that has the NCBI reference sequence NM_014049.4. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Powiązane nazwy
Finding; Findings; Molecular pathology; MOLPATH; Nominal; Point in time; Random; Simp var name