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Details for CACNA2D4:c.3245G>A, p.Cys1082Tyr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
1904529	1795363

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3245G>A

PROTEIN CHANGE

p.Cys1082Tyr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.018872	Disease causing

DBSNP ID

1 combination linked to CACNA2D4:c.3245G>A, p.Cys1082Tyr

1 disease linked to CACNA2D4:c.3245G>A, p.Cys1082Tyr

Rare pervasive developmental disorder

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