Details for APC2:c.2887C>T, p.Arg963Trp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
14661871466188
VARIANT EFFECT None
ANNOTATION FLAG None
GENE APC2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.2887C>T
PROTEIN CHANGE p.Arg963Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.856e-060.00.00.00.00.01.267e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.304081Polymorphism
DBSNP ID NA
1 combination linked to APC2:c.2887C>T, p.Arg963Trp OLI1048
1 disease linked to APC2:c.2887C>T, p.Arg963Trp Primary ovarian failure

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