CLRN1 gene.c.144T G:PrThr:Pt:Bld/Tiss:Ord:Molgen

Preferred Label : CLRN1 gene.c.144T G:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : CLRN1 gene c.144T G Molgen Ql (Bld/Tiss);

LOINC long common name : CLRN1 gene c.144T G [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : CLRN1 c.144T G Bld/T Ql;

LOINC description : The presence of the CLRN1 gene mutation c.144T G (p.N48K, NM_174878.2) is associated with Usher syndrome type III. Among Ashkenazi Jewish individuals, the carrier frequency is 1/120 (0.8%) and detection rate is about 98%. If negative, the patient's carrier risk is reduced from 1/120 to less than 1/5951 (0.02%).[PMID: 14569126];

Details

Origin ID

77749-0;

UMLS CUI

C4036654;

Has component
- CLRN1 [LOINC component]
- CLRN1 gene c.144T>G [LOINC component]
- Gene [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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