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Details for CDH23:c.193delC, p.Leu65TrpfsTer49

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73269881	71510124

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AC

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.193delC

PROTEIN CHANGE

p.Leu65TrpfsTer49

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
None	None	3.878727	Disease causing

DBSNP ID

1 combination linked to CDH23:c.193delC, p.Leu65TrpfsTer49

1 disease linked to CDH23:c.193delC, p.Leu65TrpfsTer49

Usher syndrome type 1

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