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Details for NPHP3:c.435_438del, p.Ser146LeufsTer2

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
132438629	132719785

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CACTT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.435_438del

PROTEIN CHANGE

p.Ser146LeufsTer2

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.563152	Disease causing

DBSNP ID

1 combination linked to NPHP3:c.435_438del, p.Ser146LeufsTer2

1 disease linked to NPHP3:c.435_438del, p.Ser146LeufsTer2

Nephronophthisis

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