Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs140434436

LYST

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.