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 SLC4A11:c.2305G>A, p.Gly769Arg

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
3209500	3228854

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2305G>A

PROTEIN CHANGE

p.Gly769Arg

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
0.0003191	0.0001851	0.0004918	9.946e-05	5.439e-05	4.628e-05	0.0004684	0.0006542	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.487121	Disease causing

DBSNP ID

1 combination linked to SLC4A11:c.2305G>A, p.Gly769Arg

1 disease linked to SLC4A11:c.2305G>A, p.Gly769Arg

Non-Syndromic genetic keratoconus

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