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Details for ADGRV1:c.1563dupT, p.Pro522fsTer8

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
89925074	90629257

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AT

TRANSCRIPT

CDNA CHANGE

c.1563dupT

PROTEIN CHANGE

p.Pro522fsTer8

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
4.049e-06	0.0	2.931e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.794486	Disease causing

DBSNP ID

1 combination linked to ADGRV1:c.1563dupT, p.Pro522fsTer8

1 disease linked to ADGRV1:c.1563dupT, p.Pro522fsTer8

Usher syndrome type 2

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