Variant (rsID / SNP)
rs199576020
rs199576020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,918,937. Clinical significance in the table: Uncertain significance.
Reference-table entries
LYSTUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:235918937
- Cytoband
- 1q42.3
- HGVS
- NM_000081.4(LYST):c.7070C>G (p.Ala2357Gly)
- Allele change
- Missense_A2357G
Associated conditions / phenotypes
Chédiak-Higashi syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
