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Details for COL9A3:c.736C>T, p.Arg246Trp

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
61457607	62826255

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.736C>T

PROTEIN CHANGE

p.Arg246Trp

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
2.67e-05	0.0	8.041e-05	0.0	0.0	0.0	3.554e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.07589	Polymorphism

DBSNP ID

1 combination linked to COL9A3:c.736C>T, p.Arg246Trp

1 disease linked to COL9A3:c.736C>T, p.Arg246Trp

Non-Syndromic genetic keratoconus

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