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Variant (rsID / SNP)

rs112601869

LYST

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.