" /> Simple variant:ID:Pt: Patient:Nom: - CISMeF





Preferred Label : Simple variant:ID:Pt: Patient:Nom:;

LOINC status : TRIAL;

LOINC display name : Simple variant Nom [ID];

LOINC long common name : Discrete genetic variant;

LOINC short name : Simple var ID;

LOINC description : 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/];

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26/07/2025


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