Details for PKD1:c.11494_11495del, p.Asp3832ProfsTer128

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
21418232091822
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PKD1
REFERENCE ALLELE GTC
ALTERNATE ALLELE G
TRANSCRIPT NM_001009944.2
CDNA CHANGE c.11494_11495del
PROTEIN CHANGE p.Asp3832ProfsTer128
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.319816Disease causing
DBSNP ID NA
1 combination linked to PKD1:c.11494_11495del, p.Asp3832ProfsTer128 OLI1705
1 disease linked to PKD1:c.11494_11495del, p.Asp3832ProfsTer128 Autosomal dominant polycystic kidney disease
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