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 CEP104:c.52G>A, p.Gly18Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
3768920	3852356

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.52G>A

PROTEIN CHANGE

p.Gly18Ser

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
0.0001949	0.0006155	0.0003759	0.0	0.0	0.0	0.0001847	0.0008143	0.0

ESP
AA	EA
0.000227	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.872289	Polymorphism

DBSNP ID

1 combination linked to CEP104:c.52G>A, p.Gly18Ser

1 disease linked to CEP104:c.52G>A, p.Gly18Ser

Overgrowth or tall stature syndrome with skeletal involvement

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