Details for CCNB1IP1:c.454G>A, p.Glu152Lys

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2078180420313645
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CCNB1IP1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.454G>A
PROTEIN CHANGE p.Glu152Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.776725Polymorphism
DBSNP ID NA
1 combination linked to CCNB1IP1:c.454G>A, p.Glu152Lys OLI1068
1 disease linked to CCNB1IP1:c.454G>A, p.Glu152Lys Primary ovarian failure

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