Variant (rsID / SNP)
rs140434436
rs140434436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,915,426. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LYSTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:235915426
- Cytoband
- 1q42.3
- HGVS
- NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
- Allele change
- Synonymous_Q2502Q
Associated conditions / phenotypes
Chédiak-Higashi syndrome|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
