Details for UNC13D:c.3229_3235del, p.Arg1077SerfsTer12

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
7382408375828002
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE UNC13D
REFERENCE ALLELE TTGGCCCG
ALTERNATE ALLELE T
TRANSCRIPT NM_199242.2
CDNA CHANGE c.3229_3235del
PROTEIN CHANGE p.Arg1077SerfsTer12
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010010.03.083e-050.00.0012750.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.688372Disease causing
DBSNP ID rs766652119
1 combination linked to UNC13D:c.3229_3235del, p.Arg1077SerfsTer12 OLI056
1 disease linked to UNC13D:c.3229_3235del, p.Arg1077SerfsTer12 Primary hemophagocytic lymphohistiocytosis
Found any issues with the data on this page? Report this entry.