Details for STX11:c.122T>C, p.Leu41Pro

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
144507886144186749
VARIANT EFFECT None
ANNOTATION FLAG None
GENE STX11
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.122T>C
PROTEIN CHANGE p.Leu41Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.089873Disease causing
DBSNP ID NA
1 combination linked to STX11:c.122T>C, p.Leu41Pro OLI980
1 disease linked to STX11:c.122T>C, p.Leu41Pro Hemophagocytic syndrome
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