Details for FZD6:c.1214G>A, p.Arg405Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
104337548103325320
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FZD6
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001164615.1
CDNA CHANGE c.1214G>A
PROTEIN CHANGE p.Arg405Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00620.02270.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0015590.021160.0006650.00.00.00.00014080.00097829.799e-05

ESP
AAEA
0.020650.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.904379Polymorphism
DBSNP ID rs150760762
1 combination linked to FZD6:c.1214G>A, p.Arg405Gln OLI718
1 disease linked to FZD6:c.1214G>A, p.Arg405Gln Isolated anencephaly
Found any issues with the data on this page? Report this entry.