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 COL6A6:c.5497T>C, p.Tyr1833His

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
130368170	130649326

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.5497T>C

PROTEIN CHANGE

p.Tyr1833His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002247	0.0	0.001459	0.0	0.0	0.0	4.585e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.914685	Polymorphism

DBSNP ID

1 combination linked to COL6A6:c.5497T>C, p.Tyr1833His

1 disease linked to COL6A6:c.5497T>C, p.Tyr1833His

Non-Syndromic genetic keratoconus

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