Details for NPHP4:c.7G>T, p.Asp3Tyr

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
60463435986283
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NPHP4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_015102.4
CDNA CHANGE c.7G>T
PROTEIN CHANGE p.Asp3Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00038226.48e-058.719e-050.00.00.00041790.00070120.00016596.554e-05

ESP
AAEA
0.00.0004804
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.867867Polymorphism
DBSNP ID rs145078518
1 combination linked to NPHP4:c.7G>T, p.Asp3Tyr OLI359
1 disease linked to NPHP4:c.7G>T, p.Asp3Tyr Nephronophthisis
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