Details for NPHP4:c.3454C>T, p.Pro1152Ser

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
59278185867758
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NPHP4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_015102.3
CDNA CHANGE c.3454C>T
PROTEIN CHANGE p.Pro1152Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00.00.00.0092

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00087620.00.00.00.00.00.00.00033170.006994

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.753381Polymorphism
DBSNP ID NA
1 combination linked to NPHP4:c.3454C>T, p.Pro1152Ser OLI1658
1 disease linked to NPHP4:c.3454C>T, p.Pro1152Ser Bardet-Biedl syndrome
Found any issues with the data on this page? Report this entry.