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Details for NPHP3:c.3550G>A, p.Ala1184Thr

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
132403418	132684574

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3550G>A

PROTEIN CHANGE

p.Ala1184Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0043	0.001	0.007	0.0061

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.008231	0.0009231	0.001446	0.02114	0.0001087	0.0122	0.01027	0.009314	0.009833

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.408684	Polymorphism

DBSNP ID

1 combination linked to NPHP3:c.3550G>A, p.Ala1184Thr

1 disease linked to NPHP3:c.3550G>A, p.Ala1184Thr

Bardet-Biedl syndrome

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