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Details for COL4A3:c.4523A>G, p.Asn1508Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
228173675	227308959

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4523A>G

PROTEIN CHANGE

p.Asn1508Ser

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
0.0002205	0.0	0.0001449	0.0	0.0	4.641e-05	0.0004153	0.0	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.405132	Disease causing

DBSNP ID

1 combination linked to COL4A3:c.4523A>G, p.Asn1508Ser

1 disease linked to COL4A3:c.4523A>G, p.Asn1508Ser

Non-Syndromic genetic keratoconus

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