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Part Descriptions

LP193290-6   CLRN1 gene
The CLRN1 (clarin 1) gene [HGNC Gene ID: 12605] is located on chromosome 3q25. This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008][NCBI Gene ID: 7401] Source: National Center for Biotechnology Information (NCBI) Gene

LP193290-6   CLRN1 gene
The CLRN1 gene (clarin 1) [HGNC Gene ID:12605] is located on chromosome 3q25. This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7401] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CLRN1 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
CLRN1 mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
CLRN1 Mut Bld/T Mut Anl
Display Name
CLRN1 mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CLRN1 mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    CLRN1 gene mutations
    LP453139-0
    • Analyte
      CLRN1 gene mutations
      LP453139-0
      • Component Numerator
        CLRN1 gene mutations
        LP453139-0
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Example Answer List: LL7597-9

AnswerCodeScoreAnswer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)LA6577-6
VariantLA37192-4

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.83
Last Updated
Version 2.83 (ADD)
Order vs. Observation
Both

Formula (Readable)

If SMN1 is 2 AND the SMN1 SNP is not detected, or SMN1 is 3, >=3 or >=4 then DNR SMN2 Copy number in Gene result. IF SMN1 is 0, 1, or 2 AND the SMN1 SNP is detected, or SMN1 >=2 AND SNP is detected then report SMN2 copy number in Gene results

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=115587-8