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Details for CC2D2A:c.3217C>T, p.Arg1049Ter

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
15565108	15563485

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3217C>T

PROTEIN CHANGE

p.Arg1049Ter

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
2.038e-05	0.0	0.0001464	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.846728	Disease causing

DBSNP ID

1 combination linked to CC2D2A:c.3217C>T, p.Arg1049Ter

1 disease linked to CC2D2A:c.3217C>T, p.Arg1049Ter

Joubert syndrome

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