Version 2.78

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.
Source: Regenstrief LOINC

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

Fully-Specified Name

Component
SCN1A gene.c.603-91G>A
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

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

Example Answer List: LL2478-7

Source: Regenstrief LOINC
Answer Code Score Answer 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
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen SCN1A c. 603-91G> A:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen SCN1A c. 603-91G> A:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) SCN1A gène mutation c.603-91G>A:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (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-NL Dutch (Netherlands) SCN1A-gen c.603-91G>A:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SCN1A gen
zh-CN Chinese (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

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