Details for CHD7:c.576T>A, p.Tyr192Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6165456760742008
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.576T>A
PROTEIN CHANGE p.Tyr192Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.827403Disease causing
DBSNP ID NA
1 combination linked to CHD7:c.576T>A, p.Tyr192Ter OLI1651
1 disease linked to CHD7:c.576T>A, p.Tyr192Ter Congenital hypogonadotropic hypogonadism

Found any issues with the data on this page? Report this entry.