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Details for CDH23:c.719C>T, p.Pro240Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73330641	71570884

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.719C>T

PROTEIN CHANGE

p.Pro240Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.012e-05	0.0	0.0	0.0	0.0005564	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	4.125162	Disease causing

DBSNP ID

1 combination linked to CDH23:c.719C>T, p.Pro240Leu

1 disease linked to CDH23:c.719C>T, p.Pro240Leu

Usher syndrome type 1

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