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 EYA1:c.531T>C, p.Ser210=

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
72211882	71299647

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.531T>C

PROTEIN CHANGE

p.Ser210=

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
8.769e-05	0.0	5.785e-05	0.0007938	0.0	0.0	7.921e-05	0.0004897	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	Unknown	0.759424	Polymorphism

DBSNP ID

1 combination linked to EYA1:c.531T>C, p.Ser210=

1 disease linked to EYA1:c.531T>C, p.Ser210=

Disorder of sex development

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