Details for EXO1:c.2222_2223delTA, p.Tyr742Ter

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
242048625241885323
VARIANT EFFECT None
ANNOTATION FLAG None
GENE EXO1
REFERENCE ALLELE CTA
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.2222_2223delTA
PROTEIN CHANGE p.Tyr742Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.528561Disease causing
DBSNP ID NA
1 combination linked to EXO1:c.2222_2223delTA, p.Tyr742Ter OLI1236
1 disease linked to EXO1:c.2222_2223delTA, p.Tyr742Ter Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility
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