Details for CDH23:c.5663T>C, p.Phe1888Ser

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7354480871785051
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CDH23
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_022124.5
CDNA CHANGE c.5663T>C
PROTEIN CHANGE p.Phe1888Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.435204Disease causing
DBSNP ID rs121908352
1 combination linked to CDH23:c.5663T>C, p.Phe1888Ser OLI497
1 disease linked to CDH23:c.5663T>C, p.Phe1888Ser Non-syndromic genetic deafness
Found any issues with the data on this page? Report this entry.