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Details for CACNA1H:c.883C>G, p.Arg295Gly

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1250335	1200335

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.883C>G

PROTEIN CHANGE

p.Arg295Gly

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
4.346e-06	0.0	0.0	0.0	0.0	0.0	9.713e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.766163	Polymorphism

DBSNP ID

1 combination linked to CACNA1H:c.883C>G, p.Arg295Gly

2 diseases linked to CACNA1H:c.883C>G, p.Arg295Gly

Childhood absence epilepsy; Generalized epilepsy with febrile seizures-plus

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