Details for CDH23:c.1282G>A, p.Asp428Asn

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7340572971645972
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CDH23
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001171930.1
CDNA CHANGE c.1282G>A
PROTEIN CHANGE p.Asp428Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00050410.00012982.979e-050.00.0062750.03.581e-050.00016780.0001327

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.061483Disease causing
DBSNP ID rs188376296
1 combination linked to CDH23:c.1282G>A, p.Asp428Asn OLI350
1 disease linked to CDH23:c.1282G>A, p.Asp428Asn 46,XY disorder of sex development
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