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Details for RP9:c.511_512delGA, p.Glu171ArgfsTer2

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
33134999	33095387

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TTC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.511_512delGA

PROTEIN CHANGE

p.Glu171ArgfsTer2

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	5.2597	Polymorphism

DBSNP ID

1 combination linked to RP9:c.511_512delGA, p.Glu171ArgfsTer2

1 disease linked to RP9:c.511_512delGA, p.Glu171ArgfsTer2

Retinitis pigmentosa

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