Variant exact start-end:ID:Pt: Patient:Nom:

Preferred Label : Variant exact start-end:ID:Pt: Patient:Nom:;

LOINC status : TRIAL;

LOINC display name : Genomic allele start-end;

LOINC long common name : Genomic allele start-end;

LOINC short name : Gen allele loc ID;

LOINC description : 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/];

Details

Origin ID

81254-5;

UMLS CUI

C4265558;

Has component
- Variant exact start-end [LOINC component]
Has property
- Identifier [LOINC Property]
Has scale
- Nom [LOINC scale]
Has system
- Patient [LOINC System]
- ^Patient [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Part of panel
- Simple variant panel:-:Pt:^Patient:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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