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 ADAMTS5:c.1729G>A, p.Gly577Ser

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
28305324	26933005

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1729G>A

PROTEIN CHANGE

p.Gly577Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0114	0.0015	0.0101	0.0	0.0199	0.0286

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01717	0.001664	0.01004	0.04622	0.0002727	0.02636	0.01585	0.01756	0.03236

ESP
AA	EA
0.001816	0.01814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.221148	Polymorphism

DBSNP ID

1 combination linked to ADAMTS5:c.1729G>A, p.Gly577Ser

1 disease linked to ADAMTS5:c.1729G>A, p.Gly577Ser

Primary ovarian failure

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