Details for STX11:c.627C>A, p.Ser209Arg

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
144508391144187254
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE STX11
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_003764.3
CDNA CHANGE c.627C>A
PROTEIN CHANGE p.Ser209Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.002e-060.00.00.05.46e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.737743Polymorphism
DBSNP ID rs1238811811
1 combination linked to STX11:c.627C>A, p.Ser209Arg OLI052
1 disease linked to STX11:c.627C>A, p.Ser209Arg Primary hemophagocytic lymphohistiocytosis
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