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Details for CACNA1A:c.6772C>A, p.His2258Asn

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
13319578	13208764

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6772C>A

PROTEIN CHANGE

p.His2258Asn

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
Tolerated	Possibly Damaging	3.028807	None

DBSNP ID

1 combination linked to CACNA1A:c.6772C>A, p.His2258Asn

1 disease linked to CACNA1A:c.6772C>A, p.His2258Asn

Rare pervasive developmental disorder

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