Details for NPHP4:c.2290G>A, p.Ala764Thr

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
59509425890882
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NPHP4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015102.3
CDNA CHANGE c.2290G>A
PROTEIN CHANGE p.Ala764Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.228836Polymorphism
DBSNP ID NA
1 combination linked to NPHP4:c.2290G>A, p.Ala764Thr OLI1661
1 disease linked to NPHP4:c.2290G>A, p.Ala764Thr Bardet-Biedl syndrome
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