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Details for NPHP1:c.1756C>T, p.Arg586Ter

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
110889310	110131733

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1756C>T

PROTEIN CHANGE

p.Arg586Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.962e-06	0.0	0.0	0.0	5.439e-05	0.0	8.804e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.89409	Disease causing

DBSNP ID

1 combination linked to NPHP1:c.1756C>T, p.Arg586Ter

2 diseases linked to NPHP1:c.1756C>T, p.Arg586Ter

Nephronophthisis; Retinitis pigmentosa

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