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Details for CDHR1:c.1397A>G, p.Asn466Ser

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
85970833	84211077

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1397A>G

PROTEIN CHANGE

p.Asn466Ser

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
1.193e-05	0.0	2.891e-05	0.0	0.0	0.0	1.758e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.498979	Polymorphism

DBSNP ID

1 combination linked to CDHR1:c.1397A>G, p.Asn466Ser

1 disease linked to CDHR1:c.1397A>G, p.Asn466Ser

Non-Syndromic genetic keratoconus

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