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Part Description

LP33287-1   NSD1 gene
The NSD1 gene (nuclear receptor binding SET domain protein 1) [HGNC Gene ID:14234] is located on chromosome 5q35. This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:64324] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
NSD1 gene targeted mutation analysis:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
NSD1 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics method
Short Name
NSD1 gene Mut Anl Bld/T Ql
Display Name
NSD1 gene targeted mutation analysis Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
NSD1 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    NSD1 gene targeted mutation analysis
    LP229131-0
    • Analyte
      NSD1 gene targeted mutation analysis
      LP229131-0
      • Component Numerator
        NSD1 gene targeted mutation analysis
        LP229131-0
        • Component Numerator Core
          NSD1 gene
          LP33287-1
        • 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
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.63 (MIN)
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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen NSD1 cílená mutační analýza:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο NSD1 στοχευμένη ανάλυση μεταλλάξεων:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο NSD1 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen NSD1 Analisis de mutaciones:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen NSD1:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)NSD1 gène mutation cible trouvée:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)NSD1, gene analisi di mutazione mirata:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene NSD1 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)NSD1-gen doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen NSD1 gen targeted
pl-PLPolish (Poland)NSD1 gen ukierunkowana analiza mutacji:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: Analiza mutacji genu NSD1 diagnostyka molekularna Gen NSD1
pt-BRPortuguese (Brazil)NSD1 análise de mutação genética:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: nuclear receptor binding SET domain protein 1 gene; ARA267; FLJ22263; HGNC:11418; STO; Sotos syndrome; androgen receptor-associated coregulator 267; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)NSD1 ген исследование на мутацию:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)NSD1 geni Mutasyon analizi:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)NSD1 基因 突变分析:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ARA267;FLJ22263;HGNC:11418;Sotos 综合征;Sotos 综合征（巨脑症，精神发育不全，颜面头颅异形）;STO;家族性 Sotos 综合征;核受体结合 SET 结构域蛋白 1 基因;雄激素受体辅助调节因子 267 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 基因突变分析 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=47967-5