Variant (rsID / SNP)

rs200231136

rs200231136 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,922,416. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LYSTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:235922416
Cytoband: 1q42.3
HGVS: NM_000081.4(LYST):c.6737T>G (p.Leu2246Arg)
Allele change: Missense_L2246R

Associated conditions / phenotypes

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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