Details for NPHP3:c.154G>A, p.Ala52Thr

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
132441046132722202
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NPHP3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_153240.4
CDNA CHANGE c.154G>A
PROTEIN CHANGE p.Ala52Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00420.00.00720.00.00890.0072

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.013630.0032790.0016960.021730.00013710.01530.01890.014750.01431

ESP
AAEA
0.0018410.01509
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign0.598732Polymorphism
DBSNP ID rs145643112
1 combination linked to NPHP3:c.154G>A, p.Ala52Thr OLI211
2 diseases linked to NPHP3:c.154G>A, p.Ala52Thr Nephronophthisis; Retinitis pigmentosa
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