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Details for RPGRIP1:c.337C>G, p.Leu113Val

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
21769243	21301084

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.337C>G

PROTEIN CHANGE

p.Leu113Val

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
Tolerated	Benign	-0.581096	Polymorphism

DBSNP ID

1 combination linked to RPGRIP1:c.337C>G, p.Leu113Val

1 disease linked to RPGRIP1:c.337C>G, p.Leu113Val

Bardet-Biedl syndrome

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