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Details for DOCK9:c.5018G>A, p.Arg1673Gln

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
99478131	98825877

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.5018G>A

PROTEIN CHANGE

p.Arg1673Gln

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
4.838e-05	0.0	0.0001223	0.0	9.299e-05	0.0	1.407e-05	0.0	0.0001436

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.876577	Polymorphism

DBSNP ID

1 combination linked to DOCK9:c.5018G>A, p.Arg1673Gln

1 disease linked to DOCK9:c.5018G>A, p.Arg1673Gln

Non-Syndromic genetic keratoconus

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