Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CACNA1S

contributors: mct/npt - updated : 21-12-2022

HGNC name	calcium channel, voltage-dependent, L type, alpha 1S subunit
HGNC id	1397

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HOKPP1 , MHS5

Susceptibility

to malignant hyperthermia to fluctuating asymptomatic creatine kinase elevation after rhabdomyolysis

Variant & Polymorphism	a single potentially pathogenic change in CACNA1S (p.Arg174Trp), associated to malignant hyperthermia (Carpenter 2009)
	variant (p.Arg528Leu) associated with fluctuating asymptomatic creatine kinase elevation after rhabdomyolysis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS