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Details for NPHS2:c.436delA, p.Arg146GlufsTer35

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
179530438	179561303

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.436delA

PROTEIN CHANGE

p.Arg146GlufsTer35

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.007439	Disease causing

DBSNP ID

1 combination linked to NPHS2:c.436delA, p.Arg146GlufsTer35

1 disease linked to NPHS2:c.436delA, p.Arg146GlufsTer35

Congenital nephrotic syndrome

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