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Details for NPHS2:c.413G>A, p.Arg138Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
179530462	179561327

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.413G>A

PROTEIN CHANGE

p.Arg138Gln

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
0.0005969	0.0001233	2.893e-05	0.0	0.0	9.239e-05	0.001206	0.0009788	6.533e-05

ESP
AA	EA
0.0	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.66581	Disease causing

DBSNP ID

3 combinations linked to NPHS2:c.413G>A, p.Arg138Gln

OLI257; OLI321; OLI501

2 diseases linked to NPHS2:c.413G>A, p.Arg138Gln

Genetic steroid-resistant nephrotic syndrome; Congenital nephrotic syndrome

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