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.12560G>A, p.Arg4187His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
215848693	215675351

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.12560G>A

PROTEIN CHANGE

p.Arg4187His

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
2.002e-05	0.0	2.896e-05	0.0	0.0	0.0	3.561e-05	0.0	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.323254	Polymorphism

DBSNP ID

1 combination linked to USH2A:c.12560G>A, p.Arg4187His

1 disease linked to USH2A:c.12560G>A, p.Arg4187His

Retinitis pigmentosa

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