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 USH2A:c.3920C>G, p.Ser1307Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
216371818	216198476

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3920C>G

PROTEIN CHANGE

p.Ser1307Ter

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
3.985e-06	0.0	0.0	0.0	0.0	0.0	8.826e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.697354	Disease causing

DBSNP ID

1 combination linked to USH2A:c.3920C>G, p.Ser1307Ter

1 disease linked to USH2A:c.3920C>G, p.Ser1307Ter

Usher syndrome type 2

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