Variant (rsID / SNP)

rs145347140

rs145347140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STX11. Location: chromosome 6, position 144,508,380. Clinical significance in the table: Uncertain significance.

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Reference-table entries

STX11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:144508380
Cytoband: 6q24.2
HGVS: NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
Allele change: Missense_E206K

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis|Familial hemophagocytic lymphohistiocytosis 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.