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Details for NPHP3:c.1729C>T, p.Arg577Ter

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
132419192	132700348

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1729C>T

PROTEIN CHANGE

p.Arg577Ter

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
7.963e-06	0.0	0.0	0.0	0.0	4.624e-05	8.8e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.996462	Disease causing

DBSNP ID

1 combination linked to NPHP3:c.1729C>T, p.Arg577Ter

1 disease linked to NPHP3:c.1729C>T, p.Arg577Ter

Nephronophthisis

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