NOP56 gene.GGCCTG repeats:PrThr:Pt:Bld/Tiss:Ord:Molgen

Preferred Label : NOP56 gene.GGCCTG repeats:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : NOP56 gene GGCCTG repeats Molgen Ql (Bld/Tiss);

LOINC long common name : NOP56 gene GGCCTG repeats [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : NOP56 GGCCTG Rpt Bld/T Ql;

LOINC description : The detection of an intronic GGCCTG hexanucleotide repeat from 3-8 copies to 1500-2500 copies in the NOP56 gene that causes SCA36, a rare type of spinocerebellar ataxia that presents with motor neuron dysfunction.[PMID: 21683323];

Details

Origin ID

93795-3;

UMLS CUI

C5212336;

Has component
- Gene [LOINC component]
- NOP56 gene [LOINC component]
- NOP56 gene GGCCTG repeats [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Presence or Threshold [LOINC Property]
Has scale
- Ord [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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