PCDH15 gene.c.733C T:PrThr:Pt:Bld/Tiss:Ord:Molgen

Preferred Label : PCDH15 gene.c.733C T:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : PCDH15 gene c.733C T Molgen Ql (Bld/Tiss);

LOINC long common name : PCDH15 gene c.733C T [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : PCDH15 c.733C T Bld/T Ql;

LOINC description : The presence of the PCDH15 gene mutation c.733C T (NM_033056.3) is associated with Usher syndrome type 1F. Among Ashkenazi Jewish individuals, the carrier frequency is 1/147 (0.7%) and detection rate is greater than or equal to 75%. If negative, the patient's carrier risk is reduced from 1/147 to less than 1/585 (0.2%).[PMID: 20672374];

Details

Origin ID

77748-2;

UMLS CUI

C4036655;

Has component
- Gene [LOINC component]
- PCDH15 gene [LOINC component]
- PCDH15 gene c.733C>T [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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