Details for NPHP1:c.14G>T, p.Arg5Leu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
110962532110204955
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NPHP1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_207181.2
CDNA CHANGE c.14G>T
PROTEIN CHANGE p.Arg5Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00580.00080.03750.00.00.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0075180.00098830.052740.00.00.06.175e-050.0063683.267e-05

ESP
AAEA
0.00045390.0004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.821613Polymorphism
DBSNP ID rs190983114
1 combination linked to NPHP1:c.14G>T, p.Arg5Leu OLI617
1 disease linked to NPHP1:c.14G>T, p.Arg5Leu Bardet-Biedl syndrome
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