Details for NPHP4:c.2260G>A, p.Gly754Arg

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
59509725890912
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NPHP4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015102.4
CDNA CHANGE c.2260G>A
PROTEIN CHANGE p.Gly754Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.235e-056.821e-050.00.00.00.01.823e-050.00.0

ESP
AAEA
0.00.0001191
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.224497Disease causing
DBSNP ID rs373962831
1 combination linked to NPHP4:c.2260G>A, p.Gly754Arg OLI212
1 disease linked to NPHP4:c.2260G>A, p.Gly754Arg Nephronophthisis
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