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Details for CDHR1:c.931C>A, p.Leu311Ile

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
85965651	84205895

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.931C>A

PROTEIN CHANGE

p.Leu311Ile

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
4.376e-05	0.0	5.784e-05	0.0	0.0	0.0	7.917e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.063843	Polymorphism

DBSNP ID

1 combination linked to CDHR1:c.931C>A, p.Leu311Ile

1 disease linked to CDHR1:c.931C>A, p.Leu311Ile

Non-Syndromic genetic keratoconus

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