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Details for RPE65:c.394G>A, p.Ala132Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
68910315	68444632

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.394G>A

PROTEIN CHANGE

p.Ala132Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0	0.0	0.0	0.0174

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00294	0.0001854	0.0009541	0.02113	0.0	4.62e-05	0.0008355	0.003592	0.01215

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.36467	Polymorphism

DBSNP ID

1 combination linked to RPE65:c.394G>A, p.Ala132Thr

1 disease linked to RPE65:c.394G>A, p.Ala132Thr

Bardet-Biedl syndrome

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