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Variant (rsID / SNP)

rs80338642

LYST

rs80338642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,993,599. Clinical significance in the table: Pathogenic.

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Reference-table entries

LYSTPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Duplication
Chromosome / position
1:235993599
Cytoband
1q42.3
HGVS
NM_000081.4(LYST):c.118dup (p.Ala40fs)

Associated conditions / phenotypes

Chediak-Higashi syndrome, childhood type|Chédiak-Higashi syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.