77174-1

CALR gene exon 9 mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

Active

Part Descriptions

LP189734-9   CALR gene exon 9
The CALR (calreticulin) gene [HGNC Gene ID: 1455] is located on chromosome 19p13.3-p13.2. Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008][HGNC Gene ID:811] Source: National Center for Biotechnology Information (NCBI) Gene

LP189734-9   CALR gene exon 9
Somatic mutations located in exon 9 of the CLAR gene are found in a about 65-85% of patients with myeloproliferative neoplasms, including essential thrombocythemia (ET) and primary myelofibrosis (PMF), and with nonmutated JAK2 and MPL genes. PMID: 24325359 The clinical course for patients with CLAR mutations are associated with longer risk of thrombosis and longer overall survival compared to patients with JAK2 mutations. PMID: 24325356 Over 160 unique mutations have been found in the CALR gene.[COSMIC: CALR] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name

CALR gene exon 9 mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis

Long Common Name

CALR gene exon 9 mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

Short Name

CALR Exon 9 Mut Bld/T Mut Anl

Display Name

CALR gene exon 9 mutations found Targeted gene mutation analysis Nom (Bld/Tiss)

Consumer Name Alpha Get Info

CALR gene Exon 9 mutations found, Blood or tissue specimen

Part Model Get Info

• Component

  CALR gene exon 9 mutations
  LP452181-3

  • Analyte

    CALR gene exon 9 mutations
    LP452181-3

    • Component Numerator

      CALR gene exon 9 mutations
      LP452181-3

      • Component Numerator Core

        CALR gene exon 9
        LP189734-9

      • Component Numerator Core Suffix

        mutations
        LP452208-4

    • 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

  • Time Core

    Pt
    LP6960-1

  • Time Modifier

    NULL
     

• 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: LL3290-5

Code System

COSMIC

Code System OID

2.16.840.1.113883.3.912

Link to External List

http://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CALR

Basic Attributes

Class

MOLPATH

Type

Laboratory

First Released

Version 2.52

Last Updated

Version 2.83 (NAM)

Change Reason

Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.

Order vs. Observation

Both

Common Test Rank Get Info

9778

Language Variants Get Info

Related Names

• Blood
• CALR Exon 9
• calreticulin
• cC1qR
• CRT
• HEL-S-99n
• Identity or presence
• Molecular pathology
• MOLPATH
• Mut
• Mut Anl
• Mutation
• Mutations
• Muts
• Nominal
• Point in time
• Random
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77174-1

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.