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Details for CEP41:c.423-2A>C,

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
130042642	130402801

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.423-2A>C

PROTEIN CHANGE

None

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
7.954e-06	0.0	2.891e-05	0.0	0.0	0.0	8.794e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.55031	Disease causing

DBSNP ID

1 combination linked to CEP41:c.423-2A>C,

1 disease linked to CEP41:c.423-2A>C,

Joubert syndrome

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