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Variant (rsID / SNP)

rs148299757

LYST

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.