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Details for CEP41:c.1078C>T, p.Arg360Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
130038776	130398935

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1078C>T

PROTEIN CHANGE

p.Arg360Cys

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
7.56e-05	0.0	8.675e-05	0.0	0.000598	0.0	4.401e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.86899	Disease causing

DBSNP ID

1 combination linked to CEP41:c.1078C>T, p.Arg360Cys

1 disease linked to CEP41:c.1078C>T, p.Arg360Cys

Joubert syndrome

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