Details for CHD7:c.3247A>G, p.Thr1083Ala

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6173644460823885
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.3247A>G
PROTEIN CHANGE p.Thr1083Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.749618Disease causing
DBSNP ID NA
1 combination linked to CHD7:c.3247A>G, p.Thr1083Ala OLI1346
1 disease linked to CHD7:c.3247A>G, p.Thr1083Ala Kallmann syndrome
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