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Details for CACNA1H:c.2907+1G>A,

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1257119	1207119

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2907+1G>A

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.890438	Disease causing

DBSNP ID

1 combination linked to CACNA1H:c.2907+1G>A,

1 disease linked to CACNA1H:c.2907+1G>A,

Rare pervasive developmental disorder

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