Details for UNC13D:c.2709+6G>T,

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
7382665375830572
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE UNC13D
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_199242.3
CDNA CHANGE c.2709+6G>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00290.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00082210.00.0052440.00.00.00.00.000850.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.274869Polymorphism
DBSNP ID rs199529082
1 combination linked to UNC13D:c.2709+6G>T, OLI523
1 disease linked to UNC13D:c.2709+6G>T, Familial hemophagocytic lymphohistiocytosis
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