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Details for CDH23:p.Arg3043Trp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73571121	71811364

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg3043Trp

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
2.81e-05	6.457e-05	0.0	0.0	5.563e-05	0.0	1.771e-05	0.0001652	6.536e-05

ESP
AA	EA
0.0002431	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.463448	Disease causing

DBSNP ID

1 combination linked to CDH23:p.Arg3043Trp

1 disease linked to CDH23:p.Arg3043Trp

Usher syndrome type 1

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