Details for TP63:c.1927C>T, p.Arg643Ter

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
189612175189894386
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TP63
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.1927C>T
PROTEIN CHANGE p.Arg643Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.891507Disease causing
DBSNP ID NA
1 combination linked to TP63:c.1927C>T, p.Arg643Ter OLI1064
1 disease linked to TP63:c.1927C>T, p.Arg643Ter Primary ovarian failure

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