Variant (rsID / SNP)
rs112601869
rs112601869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,922,341. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
LYSTBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:235922341
- Cytoband
- 1q42.3
- HGVS
- NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)
- Allele change
- Missense_D2271G
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.
