Details for COQ3:c.496C>T, p.Arg166Trp

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
9982404999376173
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COQ3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_017421.3
CDNA CHANGE c.496C>T
PROTEIN CHANGE p.Arg166Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.384e-050.02.895e-050.00.0002720.03.525e-050.00016360.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.906268Polymorphism
DBSNP ID rs375375802
1 combination linked to COQ3:c.496C>T, p.Arg166Trp OLI727
1 disease linked to COQ3:c.496C>T, p.Arg166Trp Isolated anencephaly
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