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Details for IDUA:c.806C>G, p.Ser269Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
995783	1001995

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.806C>G

PROTEIN CHANGE

p.Ser269Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003684	8.001e-05	0.000139	0.0	0.0	0.0003437	0.0004701	0.000193	0.0008055

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.72474	Disease causing

DBSNP ID

1 combination linked to IDUA:c.806C>G, p.Ser269Cys

1 disease linked to IDUA:c.806C>G, p.Ser269Cys

Non-Syndromic genetic keratoconus

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