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Details for CACNA1A:c.4981C>T, p.Arg1661Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
13346514	13235700

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4981C>T

PROTEIN CHANGE

p.Arg1661Cys

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	3.969101	Disease causing

DBSNP ID

1 combination linked to CACNA1A:c.4981C>T, p.Arg1661Cys

1 disease linked to CACNA1A:c.4981C>T, p.Arg1661Cys

Hereditary spastic paraplegia

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