Details for RNF43:c.988C>T, p.Arg330Ter

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
5643614958358788
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RNF43
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.988C>T
PROTEIN CHANGE p.Arg330Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.877237Disease causing
DBSNP ID NA
1 combination linked to RNF43:c.988C>T, p.Arg330Ter OLI1696
1 disease linked to RNF43:c.988C>T, p.Arg330Ter Colorectal cancer

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