Variant (rsID / SNP)

rs9282541

rs9282541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,620,835. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:107620835
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys)
Allele change: Missense_R230C

Associated conditions / phenotypes

Tangier disease|Hypoalphalipoproteinemia, primary, 1

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.