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Details for USH2A:p.Ser5030Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
215808009	215634667

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser5030Ter

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
3.977e-06	0.0	2.891e-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	7.514923	Disease causing

DBSNP ID

1 combination linked to USH2A:p.Ser5030Ter

1 disease linked to USH2A:p.Ser5030Ter

Usher syndrome type 2

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