Variant (rsID / SNP)

rs2853578

rs2853578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA1. Location: chromosome 9, position 107,593,308. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:107593308
Cytoband: 9q31.1
HGVS: NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg)
Allele change: Missense_Q597R

Associated conditions / phenotypes

Tangier disease

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.