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Details for CDH23:c.7351A>G, p.Asn2451Asp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73559375	71799618

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.7351A>G

PROTEIN CHANGE

p.Asn2451Asp

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
Tolerated	Benign	2.331392	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.7351A>G, p.Asn2451Asp

1 disease linked to CDH23:c.7351A>G, p.Asn2451Asp

Non-Syndromic genetic keratoconus

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