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Variant (rsID / SNP)

rs150306354

LYST

rs150306354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,909,738. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

LYSTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:235909738
Cytoband
1q42.3
HGVS
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)
Allele change
Missense_R2624W

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.