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Details for CDH23:c.2789C>T, p.Pro930Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73464723	71704966

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2789C>T

PROTEIN CHANGE

p.Pro930Leu

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
6.865e-05	0.0	0.0	0.0	0.0001117	0.0	8.954e-06	0.0	0.0004576

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.482558	Polymorphism

DBSNP ID

4 combinations linked to CDH23:c.2789C>T, p.Pro930Leu

OLI1100; OLI1102; OLI1103; OLI1104

1 disease linked to CDH23:c.2789C>T, p.Pro930Leu

Rare genetic deafness

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