Details for DCC:c.272A>G, p.Gln91Arg

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
5027860452752234
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DCC
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_005215.3
CDNA CHANGE c.272A>G
PROTEIN CHANGE p.Gln91Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.911529Polymorphism
DBSNP ID NA
1 combination linked to DCC:c.272A>G, p.Gln91Arg OLI844
1 disease linked to DCC:c.272A>G, p.Gln91Arg Kallmann syndrome

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