Details for PKD2:c.715_718dupTACG, p.Gly240fs

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
8895737688036224
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE PKD2
REFERENCE ALLELE C
ALTERNATE ALLELE CTACG
TRANSCRIPT NM_000297.4
CDNA CHANGE c.715_718dupTACG
PROTEIN CHANGE p.Gly240fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.797454Disease causing
DBSNP ID NA
1 combination linked to PKD2:c.715_718dupTACG, p.Gly240fs OLI148
1 disease linked to PKD2:c.715_718dupTACG, p.Gly240fs Autosomal dominant polycystic kidney disease
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