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Details for CDH23:c.7834G>T, p.Val2612Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
73563139	71803382

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.7834G>T

PROTEIN CHANGE

p.Val2612Leu

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.968643	Polymorphism

DBSNP ID

1 combination linked to CDH23:c.7834G>T, p.Val2612Leu

1 disease linked to CDH23:c.7834G>T, p.Val2612Leu

Non-Syndromic genetic keratoconus

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