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:p.Gly1301Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
216371836	216198494

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gly1301Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.0	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000833	0.0002461	2.891e-05	0.0	0.0	0.0	0.0001412	0.0008165	0.005979

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.687999	Disease causing

DBSNP ID

1 combination linked to USH2A:p.Gly1301Val

1 disease linked to USH2A:p.Gly1301Val

Usher syndrome type 1

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