Variant (rsID / SNP)
rs80338651
rs80338651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,969,351. Clinical significance in the table: Pathogenic.
Reference-table entries
LYSTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:235969351
- Cytoband
- 1q42.3
- HGVS
- NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
- Allele change
- Nonsense_Q1029X
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.