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Details for NPHP3:p.Asn386Ser

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
132427063	132708219

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Asn386Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0008	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00189	0.0006173	0.001735	9.921e-05	0.0	0.001294	0.003159	0.002778	0.0

ESP
AA	EA
0.0009083	0.003953

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.144782	Polymorphism

DBSNP ID

1 combination linked to NPHP3:p.Asn386Ser

1 disease linked to NPHP3:p.Asn386Ser

Meckel syndrome

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