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Details for SPARC:c.280G>A, p.Val94Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
151051184	151671623

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.280G>A

PROTEIN CHANGE

p.Val94Met

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
2.917e-05	0.0002529	2.98e-05	0.0	0.0	0.0	9.292e-06	0.0	3.446e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.175102	Disease causing

DBSNP ID

1 combination linked to SPARC:c.280G>A, p.Val94Met

1 disease linked to SPARC:c.280G>A, p.Val94Met

Non-Syndromic genetic keratoconus

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