This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for COL6A5:c.5392G>A, p.Gly1798Arg

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
130150452	130431608

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5392G>A

PROTEIN CHANGE

p.Gly1798Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001562	0.0	0.0006077	0.0003539	0.0	0.0	0.0001012	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.720564	Disease causing

DBSNP ID

1 combination linked to COL6A5:c.5392G>A, p.Gly1798Arg

1 disease linked to COL6A5:c.5392G>A, p.Gly1798Arg

Non-Syndromic genetic keratoconus

Found any issues with the data on this page? Report this entry.