Variant (rsID / SNP)

rs146949718

rs146949718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STX11. Location: chromosome 6, position 144,508,310. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

STX11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:144508310
Cytoband: 6q24.2
HGVS: NM_003764.4(STX11):c.546G>A (p.Glu182=)
Allele change: Synonymous_E182E

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 4|Autoinflammatory syndrome

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.