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Details for SLC8A3:c.56T>C, p.Val19Ala

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
70635084	70168367

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.56T>C

PROTEIN CHANGE

p.Val19Ala

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
4.387e-05	0.0	0.0002894	0.0	0.0	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.931986	Polymorphism

DBSNP ID

1 combination linked to SLC8A3:c.56T>C, p.Val19Ala

1 disease linked to SLC8A3:c.56T>C, p.Val19Ala

Non-Syndromic genetic keratoconus

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