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Term Description

The patient's genotype (e.g. G/A) for the c.603-91G>A (rs3812718, also known as IVS5-91G>A) variant in the SCN1A (sodium voltage-gated channel alpha subunit 1) gene.

Part Description

LP417577-6   SCN1A gene.c.603-91G>A
The SCN1A gene (sodium channel, voltage gated, type I alpha subunit) [HGNC Gene ID:10585] is located on chromosome 2q24.3. The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011] [NCBI Gene ID:6323] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
SCN1A gene.c.603-91G>A:Geno:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
SCN1A gene.c.603-91G>A [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Short Name
SCN1A c.603-91G>A Geno Bld/T
Display Name
SCN1A gene c.603-91G>A genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
SCN1A gene c.603-91G>A genotype, Blood or tissue specimen

Part Model Get Info

  • Component
    SCN1A gene.c.603-91G>A
    LP417577-6
    • Analyte
      SCN1A gene.c.603-91G>A
      LP417577-6
      • Component Numerator
        SCN1A gene.c.603-91G>A
        LP417577-6
        • Component Numerator Core
          SCN1A gene.c.603-91G>A
          LP417577-6
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Geno
    LP345004-8
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL2478-7

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
G/G (wild type)LA19932-5
G/A (heterozygous)LA19933-3
A/A (homozygous)LA19934-1

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68 (ADD)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SCN1A.c.603-91G>A:Genotyp:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SCN1A c.603-91G>A:Geno:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: A C Geno MOLPATH MOLPATH.PHARMG Nom Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SCN1A Γονίδιο SCN1A c.603-91G>A Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen SCN1A c. 603-91G> A:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Gen SCN1A c. 603-91G> A:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)SCN1A gène mutation c.603-91G>A:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)SCN1A, gene.c.603-91G>A:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene SCN1A Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)SCN1A-gen c.603-91G>A:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SCN1A gen
pl-PLPolish (Poland)SCN1A gen.c.603-91G>A:genotyp:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen SCN1A Gen SCN1A c.603-91G>A wynik kategorialny
zh-CNChinese (China)SCN1A 基因.c.603-91G>A:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: A 型 C 型;丙;丙型 GEFSP2;HBSCI;NAC1;SCN1;钠离子通道, 电压门控, I型, alpha 多肽基因;钠离子通道, 电压门控, I型, α多肽基因;钠离子通道, 电压门控型, I型, alpha 多肽基因;钠离子通道, 电压门控型, I型, α多肽基因;钠离子通道, 电压门控式, I型, alpha 多肽基因;钠离子通道, 电压门控式, I型, α多肽基因;钠离子通道, 电压门控性, I 型, alpha 多肽基因;钠离子通道, 电压门控性, I 型, α多肽基因;钠离子通道蛋白, 大脑 I 型 alph 全血或组织;血液/组织;血液或组织 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 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 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94416-5