Details for NPHS2:c.623G>A, p.Arg229Gln

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
179526214179557079
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NPHS2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT None
CDNA CHANGE c.623G>A
PROTEIN CHANGE p.Arg229Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01460.0030.0130.00.04170.0184

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.030450.0062150.012840.052360.00010880.069720.035760.029470.02697

ESP
AAEA
0.0077170.03756
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.02406Disease causing
DBSNP ID rs61747728
1 combination linked to NPHS2:c.623G>A, p.Arg229Gln OLI255
1 disease linked to NPHS2:c.623G>A, p.Arg229Gln Congenital nephrotic syndrome
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