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Details for NPHS1:c.563A>T, p.Asn188Ile

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
36341311	35850409

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.563A>T

PROTEIN CHANGE

p.Asn188Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.004	0.0	0.0058	0.0	0.0089	0.0072

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006048	0.001415	0.004278	0.001984	0.0	0.002356	0.009273	0.007003	0.005912

ESP
AA	EA
0.001589	0.009767

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.101994	Polymorphism

DBSNP ID

1 combination linked to NPHS1:c.563A>T, p.Asn188Ile

1 disease linked to NPHS1:c.563A>T, p.Asn188Ile

Congenital nephrotic syndrome

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