Details for PDZD7:c.166dup, p.Arg56ProfsTer24

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
102789810101030053
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE PDZD7
REFERENCE ALLELE C
ALTERNATE ALLELE CG
TRANSCRIPT NM_001195263.2
CDNA CHANGE c.166dup
PROTEIN CHANGE p.Arg56ProfsTer24
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.995e-050.00018712.894e-059.966e-055.446e-050.00.00011510.03.267e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.202186Disease causing
DBSNP ID rs587776894
1 combination linked to PDZD7:c.166dup, p.Arg56ProfsTer24 OLI120
1 disease linked to PDZD7:c.166dup, p.Arg56ProfsTer24 Usher syndrome type 2
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