Details for PJVK:c.-22,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
179318109178453382
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PJVK
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_001042702.3
CDNA CHANGE c.-22
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00092860.00.00.00.012240.02.663e-050.00049640.0001635

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.456969Polymorphism
DBSNP ID NA
1 combination linked to PJVK:c.-22, OLI1318
1 disease linked to PJVK:c.-22, Rare genetic deafness
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