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Details for KRT7:c.73C>A, p.Arg25Ser

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
52627153	52233369

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.73C>A

PROTEIN CHANGE

p.Arg25Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001272	0.0	0.0001118	0.0	0.0	0.0	0.0002382	0.0002308	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.020463	Polymorphism

DBSNP ID

1 combination linked to KRT7:c.73C>A, p.Arg25Ser

1 disease linked to KRT7:c.73C>A, p.Arg25Ser

Non-Syndromic genetic keratoconus

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