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Details for CDH23:c.2568C>G, p.Ile856Met

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73461949	71702192

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2568C>G

PROTEIN CHANGE

p.Ile856Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006264	0.0	0.0	0.0009968	5.564e-05	0.06328	0.001301	0.005962	3.268e-05

ESP
AA	EA
0.0	0.0004757

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.312428	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.2568C>G, p.Ile856Met

1 disease linked to CDH23:c.2568C>G, p.Ile856Met

Usher syndrome type 1

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