Details for CDH23:c.4210-16C>A,

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7349823971738482
VARIANT EFFECT unknown
ANNOTATION FLAG automatically_attributed_and_verified
GENE CDH23
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_022124.5
CDNA CHANGE c.4210-16C>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.012e-060.00.00.05.564e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.153802Polymorphism
DBSNP ID rs775928557
1 combination linked to CDH23:c.4210-16C>A, OLI352
1 disease linked to CDH23:c.4210-16C>A, 46,XY disorder of sex development
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