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Details for CPSF3:c.1120A>G, p.Ile374Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
9583668	9443539

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1120A>G

PROTEIN CHANGE

p.Ile374Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.592e-05	0.0002461	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.218575	Disease causing

DBSNP ID

1 combination linked to CPSF3:c.1120A>G, p.Ile374Val

1 disease linked to CPSF3:c.1120A>G, p.Ile374Val

Non-Syndromic genetic keratoconus

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