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Details for CACNA1C:

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
2788616	2679450

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
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.798e-05	0.0	3.383e-05	0.0	0.0	0.0	0.0001069	0.0002075	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.727556	Disease causing

DBSNP ID

1 combination linked to CACNA1C:

1 disease linked to CACNA1C:

Rare pervasive developmental disorder

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