General Information of Drug Transporter (DT)
DT ID	DTD0530 Transporter Info
Gene Name	CACNA1H
Protein Name	Voltage-gated calcium channel alpha Cav3.2
Gene ID	8912
UniProt ID	O95180
Genetic Polymorphisms of DT (GPD)
Genetic Polymorphism	rs1054645
Site of GPD	chr16:1220162 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	G>A
Minor Allele Frequency	G=0.2993/1499 (Global)
Allele A	Click to Show/Hide the Full List of Affected Drugs:           2 Drugs in Total
Antiepileptics	N.A.	Myotonic Disorders	Allele A is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele G.		[ 1]
Antiepileptics	N.A.	Epilepsy	Irrelevant to the drug resistance in patients (compare with allele G)		[ 1]
Genetic Polymorphism	rs3751664
Site of GPD	chr16:1204369 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	C>T
Minor Allele Frequency	C=0.9550/1889 (Global)
Allele T	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Valproic Acid	N.A.	Myotonic Disorders	Allele T is associated with increased resistance to valproic acid in people with Epilepsy as compared to allele C.		[ 2]
Allele C	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Antiepileptics	N.A.	Myotonic Disorders	Allele C is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele T.		[ 1]
Genetic Polymorphism	rs61734410
Site of GPD	chr16:1202369 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	C>A / C>T
Minor Allele Frequency	C=0.5730/1133 (Global)
Allele T	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Ethosuximide	N.A.	Myotonic Disorders	Allele T is associated with decreased clinical benefit to ethosuximide in children with Epilepsy as compared to allele C.		[ 3]
Genetic Polymorphism	rs2753326
Site of GPD	chr16:1211219 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>G
Minor Allele Frequency	A=0.2920/577 (Global)
Allele A	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Lamotrigine	N.A.	Myotonic Disorders	Allele A is associated with increased clinical benefit to lamotrigine in children with Epilepsy as compared to allele G.		[ 3]
Genetic Polymorphism	rs11640796
Site of GPD	chr16:1175628 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>G
Minor Allele Frequency	A=0.7630/1509 (Global)
Allele A	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Antiepileptics	N.A.	Myotonic Disorders	Allele A is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele G.		[ 1]
Genetic Polymorphism	rs7191246
Site of GPD	chr16:1202737 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	G>C
Minor Allele Frequency	G=0.8250/1632 (Global)
Allele C	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Antiepileptics	N.A.	Myotonic Disorders	Allele C is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele G.		[ 1]
Genetic Polymorphism	rs3794619
Site of GPD	chr16:1197482 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	T>C
Minor Allele Frequency	T=0.8250/1632 (Global)
Allele T	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Antiepileptics	N.A.	Myotonic Disorders	Allele T is not associated with resistance to antiepileptics in people with Epilepsy as compared to allele C.		[ 1]
Genetic Polymorphism	rs2753325
Site of GPD	chr16:1211222 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>C / A>G
Minor Allele Frequency	A=0.2910/575 (Global)
Allele A	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Lamotrigine	N.A.	Myotonic Disorders	Allele A is associated with increased clinical benefit to lamotrigine in children with Epilepsy as compared to allele G.		[ 3]
References
1	Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population. Seizure. 2015 Aug;30:64-9.
2	Association of valproic acid-related pharmacodynamics, pharmacokinetic pathways and transporter gene polymorphisms and antiepileptic efficacy in Chinese patients. Xenobiotica. 2025 Jun 23:1-12.
3	Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. Ann Neurol. 2017 Mar;81(3):444-453.

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