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 CDHR1:c.1133G>A, p.Arg378Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
85968099	84208343

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1133G>A

PROTEIN CHANGE

p.Arg378Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0029	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001107	0.0005538	0.0004337	0.0008939	0.0001087	0.0001848	0.001948	0.001304	0.0003267

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.447408	Polymorphism

DBSNP ID

1 combination linked to CDHR1:c.1133G>A, p.Arg378Gln

1 disease linked to CDHR1:c.1133G>A, p.Arg378Gln

Non-Syndromic genetic keratoconus

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