Rekord LOINC: 81254-5
Tylko wersja angielska TRIAL
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
81254-5
FHIR
|
| Long Common Name: | Genomic allele start-end |
| Short Name: | Gen allele loc ID |
| Status: | TRIAL |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
Variant exact start-end
:
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: | 2.68 |
Definicja i opis
EN
The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Powiązane nazwy
Ident; Identifier; Molecular pathology; MOLPATH; Nominal; Point in time; Random; Started