Details for UNC13D:c.952_953delGCinsTA, p.Ala318Ter

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
7383602275839941
VARIANT EFFECT None
ANNOTATION FLAG None
GENE UNC13D
REFERENCE ALLELE GC
ALTERNATE ALLELE TA
TRANSCRIPT N.A.
CDNA CHANGE c.952_953delGCinsTA
PROTEIN CHANGE p.Ala318Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.318959None
DBSNP ID NA
1 combination linked to UNC13D:c.952_953delGCinsTA, p.Ala318Ter OLI980
1 disease linked to UNC13D:c.952_953delGCinsTA, p.Ala318Ter Hemophagocytic syndrome
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