Details for CHD7:c.2966G>A, p.Cys989Tyr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6173507060822511
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.2966G>A
PROTEIN CHANGE p.Cys989Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.144934Disease causing
DBSNP ID NA
1 combination linked to CHD7:c.2966G>A, p.Cys989Tyr OLI1605
1 disease linked to CHD7:c.2966G>A, p.Cys989Tyr Kallmann syndrome
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