Variant (rsID / SNP)
rs80338643
rs80338643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,993,570. Clinical significance in the table: Pathogenic.
Reference-table entries
LYSTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:235993570
- Cytoband
- 1q42.3
- HGVS
- NM_000081.4(LYST):c.148C>T (p.Arg50Ter)
- Allele change
- Nonsense_R50X
Associated conditions / phenotypes
Chediak-Higashi syndrome, childhood type|Chédiak-Higashi syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.