Details for CHD7:c.1765T>A, p.Ser589Thr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6169365860781099
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1765T>A
PROTEIN CHANGE p.Ser589Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.656187Polymorphism
DBSNP ID NA
1 combination linked to CHD7:c.1765T>A, p.Ser589Thr OLI1322
1 disease linked to CHD7:c.1765T>A, p.Ser589Thr Kallmann syndrome
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