Details for UNC13D:c.2828A>G, p.Asn943Ser

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
7382644575830364
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE UNC13D
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_199242.3
CDNA CHANGE c.2828A>G
PROTEIN CHANGE p.Asn943Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.0030.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00052790.005420.00022780.00.00.00.00031320.0005587.423e-05

ESP
AAEA
0.0056920.0001164
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.294417Polymorphism
DBSNP ID rs147748627
2 combinations linked to UNC13D:c.2828A>G, p.Asn943Ser OLI542; OLI543
1 disease linked to UNC13D:c.2828A>G, p.Asn943Ser Familial hemophagocytic lymphohistiocytosis
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