Details for PCDH15:c.3832C>A,

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
5560024653840486
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PCDH15
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.3832C>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0010.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00062060.0001230.00052050.00.00.00027720.00093250.00065170.0006533

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.060509Polymorphism
DBSNP ID NA
1 combination linked to PCDH15:c.3832C>A, OLI1370
1 disease linked to PCDH15:c.3832C>A, Usher syndrome

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