Details for CHD7:c.8512delG, p.Asp2838ThrfsTer51

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6177800960865450
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE AG
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.8512delG
PROTEIN CHANGE p.Asp2838ThrfsTer51
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.831475Disease causing
DBSNP ID NA
1 combination linked to CHD7:c.8512delG, p.Asp2838ThrfsTer51 OLI1163
1 disease linked to CHD7:c.8512delG, p.Asp2838ThrfsTer51 Kallmann syndrome
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