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 SDCCAG8:c.1594G>A, p.Glu532Lys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
243542143	243378841

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1594G>A

PROTEIN CHANGE

p.Glu532Lys

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
5.97e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.00049

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.722392	Disease causing

DBSNP ID

1 combination linked to SDCCAG8:c.1594G>A, p.Glu532Lys

1 disease linked to SDCCAG8:c.1594G>A, p.Glu532Lys

Bardet-Biedl syndrome

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