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Details for CDH23:c.9565C>T, p.Arg3189Trp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73572579	71812822

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.9565C>T

PROTEIN CHANGE

p.Arg3189Trp

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
1.614e-05	0.0	0.0	0.0003988	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.153903	Disease causing

DBSNP ID

1 combination linked to CDH23:c.9565C>T, p.Arg3189Trp

1 disease linked to CDH23:c.9565C>T, p.Arg3189Trp

Usher syndrome type 1

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