21643-2LOINC 2.82
CACNA1S gene p.Arg1239His [Presence] in Blood or Tissue by Molecular genetics method
CACNA1S p.R1239h Bld/T Ql
Component
- CACNA1S gene.p.Arg1239His
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- PrThr
Scale
- Ord
Method
- Molgen
Related names
- Arg1239His; Blood; CACH1; CACN1; CACNA1S p.R1239h; CACNL1A3; calcium channel, voltage-dependent, L type, alpha 1S subunit; Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; Cav1.1; CCHL1A3; DHP receptor; Genetics; Heredity; Heritable; HOKPP; HOKPP1; Hypokalemic periodic paralysis; HypoPP; Inherited; Malignant hyperthermia susceptibility 5; MHS5; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; P prime; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; TTPP1; WB; Whole blood; Whole blood or Tissue
Index terms
- Arg1239His
- Blood
- CACH1
- CACN1
- CACNA1S gene.p.Arg1239His
- CACNA1S p.R1239h
- CACNL1A3
- calcium channel, voltage-dependent, L type, alpha 1S subunit
- Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
- Cav1.1
- CCHL1A3
- DHP receptor
- Genetics
- Heredity
- Heritable
- HOKPP
- HOKPP1
- Hypokalemic periodic paralysis
- HypoPP
- Inherited
- Malignant hyperthermia susceptibility 5
- MHS5
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Ordinal
- P prime
- PCR
- Point in time
- PR
- QL
- Qual
- Qualitative
- Random
- Screen
- Tissue
- Tissue, unspecified
- TTPP1
- WB
2 further terms