Variant (rsID / SNP)

rs147756847

rs147756847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LYST. Location: chromosome 1, position 235,922,671. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LYSTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:235922671
Cytoband: 1q42.3
HGVS: NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
Allele change: Missense_E2161A

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.