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Details for NPHS2:c.948delT, p.Ala317LeufsTer31

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
179520511	179551376

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CA

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.948delT

PROTEIN CHANGE

p.Ala317LeufsTer31

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
1.195e-05	0.0	0.0	0.0	0.0	0.0	2.646e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.38273	Disease causing

DBSNP ID

1 combination linked to NPHS2:c.948delT, p.Ala317LeufsTer31

1 disease linked to NPHS2:c.948delT, p.Ala317LeufsTer31

Genetic steroid-resistant nephrotic syndrome

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