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Details for ADAMTS9:c.3967C>T, p.Arg1323Cys

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
64587670	64601994

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3967C>T

PROTEIN CHANGE

p.Arg1323Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.597e-05	0.0	0.0	0.0	0.0001635	0.0	0.0	0.0	3.27e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.992538	Polymorphism

DBSNP ID

1 combination linked to ADAMTS9:c.3967C>T, p.Arg1323Cys

1 disease linked to ADAMTS9:c.3967C>T, p.Arg1323Cys

Non-Syndromic genetic keratoconus

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