This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for CACNA1C:

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
2797868	2688702

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003451	0.0004144	5.861e-05	0.0005109	0.0	0.0008849	0.0002315	0.000339	0.000825

ESP
AA	EA
0.0002608	0.0004883

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.853236	Polymorphism

DBSNP ID

1 combination linked to CACNA1C:

1 disease linked to CACNA1C:

Rare pervasive developmental disorder

Found any issues with the data on this page? Report this entry.