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Details for CACNA1C:

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
2794993	2685827

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0086	0.0	0.0605	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0102	0.0005818	0.06974	0.0	5.564e-05	0.0	0.0006837	0.006457	0.0001635

ESP
AA	EA
0.001257	0.001437

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.291406	Polymorphism

DBSNP ID

2 combinations linked to CACNA1C:

1 disease linked to CACNA1C:

Rare pervasive developmental disorder

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