21645-7
CACNA1S gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19671-4 CACNA1S gene
The CACNA1S gene (calcium channel, voltage-dependent, L type, alpha 1S subunit) [HGNC Gene ID:1397] is located on chromosome 1q32. This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] [NCBI Gene ID:779]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CACNA1S gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- CACNA1S gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- CACNA1S gene Mut Tested Bld/T
- Display Name
- CACNA1S gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- CACNA1S gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | determinación de las mutaciones del gen CACNA1S: |
es-ES | Spanish (Spain) | Gen CACNA1S Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen CACNA1S analizadas para: |
fr-FR | French (France) | CACNA1S gène mutations recherchées: |
it-IT | Italian (Italy) | CACNA1S, gene, mutazioni testate per: Synonyms: Gene CACNA1S Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | 카크나일에스 유전자 돌연변이 분석용: |
nl-NL | Dutch (Netherlands) | CACNA1S-gen geteste mutaties: Synonyms: CACNA1S gen molgen |
pt-BR | Portuguese (Brazil) | CACNA1S teste para mutação do gene: Synonyms: Hypokalemic periodic paralysis; |
ru-RU | Russian (Russian Federation) | CACNA1S ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | CACNA1S geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | CACA1S 基因 已测试的突变: Synonyms: CACH1; |
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