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Details for RP2:c.348_349insT, p.Phe117Phefs7

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
None	None

VARIANT EFFECT

frameshift

ANNOTATION FLAG

ambiguous_variant

GENE

REFERENCE ALLELE

None

ALTERNATE ALLELE

None

TRANSCRIPT

N.A.

CDNA CHANGE

c.348_349insT

PROTEIN CHANGE

p.Phe117Phefs7

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	None	None

DBSNP ID

1 combination linked to RP2:c.348_349insT, p.Phe117Phefs7

1 disease linked to RP2:c.348_349insT, p.Phe117Phefs7

Retinitis pigmentosa

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