Variant (rsID / SNP)
rs148299757
rs148299757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,969,125. 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
- 1:235969125
- Cytoband
- 1q42.3
- HGVS
- NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
- Allele change
- Missense_R1104Q
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.
