Details for CHD7:c.1623C>A, p.His541Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6165561460743055
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1623C>A
PROTEIN CHANGE p.His541Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.190324Polymorphism
DBSNP ID NA
1 combination linked to CHD7:c.1623C>A, p.His541Gln OLI1746
1 disease linked to CHD7:c.1623C>A, p.His541Gln 46,XY disorder of sex development
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