Details for CHD7:c.2548A>C, p.Lys850Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6172899560816436
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.2548A>C
PROTEIN CHANGE p.Lys850Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.867518Disease causing
DBSNP ID NA
1 combination linked to CHD7:c.2548A>C, p.Lys850Gln OLI1160
1 disease linked to CHD7:c.2548A>C, p.Lys850Gln Kallmann syndrome
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