Details for PKD2:c.991_992delTGinsAC, p.Cys331Thr

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
8895955088038398
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE PKD2
REFERENCE ALLELE TG
ALTERNATE ALLELE AC
TRANSCRIPT NM_000297.5
CDNA CHANGE c.991_992delTGinsAC
PROTEIN CHANGE p.Cys331Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.836639None
DBSNP ID NA
2 combinations linked to PKD2:c.991_992delTGinsAC, p.Cys331Thr OLI326; OLI327
1 disease linked to PKD2:c.991_992delTGinsAC, p.Cys331Thr Autosomal dominant polycystic kidney disease
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