Details for CHD7:c.3088A>C, p.Asn1030His

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6173519260822633
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.3088A>C
PROTEIN CHANGE p.Asn1030His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.705588Disease causing
DBSNP ID NA
2 combinations linked to CHD7:c.3088A>C, p.Asn1030His OLI1161; OLI1162
1 disease linked to CHD7:c.3088A>C, p.Asn1030His Kallmann syndrome
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