Variant (rsID / SNP)

rs28940887

rs28940887 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCAT. Location: chromosome 16, position 67,976,622. Clinical significance in the table: Pathogenic.

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Reference-table entries

LCATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:67976622
Cytoband: 16q22.1
HGVS: NM_000229.2(LCAT):c.475C>T (p.Arg159Trp)
Allele change: Missense_R159W

Associated conditions / phenotypes

LCAT deficiency

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.