107254-5

CALR gene exon 9 mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

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Part Descriptions

LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

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 targeted mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing
Long Common Name: CALR gene exon 9 mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Short Name: CALR Exon 9 Mut Anl Bld/T Seq
Display Name: CALR gene exon 9 targeted mutation analysis Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info: CALR gene Exon 9 targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

Component
CALR gene exon 9 targeted mutation analysis
LP227863-0
- Analyte
  CALR gene exon 9 targeted mutation analysis
  LP227863-0
  - Component Numerator
    CALR gene exon 9 targeted mutation analysis
    LP227863-0
    - Component Numerator Core
      CALR gene exon 9
      LP189734-9
    - Component Numerator Core Suffix
      targeted mutation analysis
      LP32419-1
  - 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
Sequencing
LP150045-5

Example Answer List: LL744-4

Source: Regenstrief Institute

Answer	Code	Score	Answer ID
Detected			LA11882-0
Not detected			LA11883-8

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.79
Last Updated: Version 2.79 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Γονίδιο CALR εξώνιο 9 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Αλληλούχιση Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο CALR εξώνιο 9 Ιστός στοχευμένη ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	gen CALR, exon 9 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
fr-CA	French (Canada)	Gène CAL exon 9 ciblé, analyse de la mutation:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Séquençage
fr-FR	French (France)	CALR gène exon 9 mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-IT	Italian (Italy)	CALR, gene exon 9 analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Sequenziamento Synonyms: Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	CALR-gen exon 9 doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing Synonyms: CALR gen exon 9 targeted
pl-PL	Polish (Poland)	CALR gen ekson 9 ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie Synonyms: Analiza mutacji w eksonie 9 genu CALR Ekson 9 genu CALR wynik kategorialny
tr-TR	Turkish (Turkey)	CALR geni ekzon 9 Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Sekanslama Synonyms: Dizi tayini
zh-CN	Chinese (China)	CALR 基因外显子 9 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:序列测定 Synonyms: 全血或组织;血液/组织;血液或组织分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;分子病理学试验分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答基因突变分析存在;存在与否;特征标识;身份;身份标识序列分析;测序时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

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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.