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Details for IDUA:c.1354C>A, p.Arg452Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
996684	1002896

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1354C>A

PROTEIN CHANGE

p.Arg452Ser

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
2.498e-05	0.0	0.0	0.0	0.001082	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.799345	Polymorphism

DBSNP ID

1 combination linked to IDUA:c.1354C>A, p.Arg452Ser

1 disease linked to IDUA:c.1354C>A, p.Arg452Ser

Non-Syndromic genetic keratoconus

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