Details for RAD50:c.2165dupA, p.Glu723GlyfsTer5

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
131931453132595761
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RAD50
REFERENCE ALLELE -
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.2165dupA
PROTEIN CHANGE p.Glu723GlyfsTer5
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to RAD50:c.2165dupA, p.Glu723GlyfsTer5 OLI1046
1 disease linked to RAD50:c.2165dupA, p.Glu723GlyfsTer5 Primary ovarian failure
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