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Details for USH2A:c.4515_4518del, p.Arg1505SerfsTer7

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
216348702	216175360

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

ACTCT

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4515_4518del

PROTEIN CHANGE

p.Arg1505SerfsTer7

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.196139	Disease causing

DBSNP ID

1 combination linked to USH2A:c.4515_4518del, p.Arg1505SerfsTer7

1 disease linked to USH2A:c.4515_4518del, p.Arg1505SerfsTer7

Usher syndrome type 2

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