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 COL8A2:c.1645G>A, p.Gly549Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
36563637	36098036

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1645G>A

PROTEIN CHANGE

p.Gly549Ser

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
8.432e-05	0.0001426	0.0002382	0.0	0.0	0.0	4.821e-05	0.0	0.0001353

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.908589	Polymorphism

DBSNP ID

1 combination linked to COL8A2:c.1645G>A, p.Gly549Ser

1 disease linked to COL8A2:c.1645G>A, p.Gly549Ser

Non-Syndromic genetic keratoconus

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