Details for CDH23:c.7221C>A, p.Tyr2407Ter

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7355903471799277
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE CDH23
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_022124.5
CDNA CHANGE c.7221C>A
PROTEIN CHANGE p.Tyr2407Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.263106Disease causing
DBSNP ID rs779038178
1 combination linked to CDH23:c.7221C>A, p.Tyr2407Ter OLI600
1 disease linked to CDH23:c.7221C>A, p.Tyr2407Ter Disorder of sex development
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