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Details for NPHS2:c.622G>A, p.Ala208Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
179526278	179557143

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.622G>A

PROTEIN CHANGE

p.Ala208Thr

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
5.174e-05	0.0	2.894e-05	0.0	0.0	0.0	8.802e-05	0.0003268	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.960955	None

DBSNP ID

1 combination linked to NPHS2:c.622G>A, p.Ala208Thr

1 disease linked to NPHS2:c.622G>A, p.Ala208Thr

Genetic steroid-resistant nephrotic syndrome

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