Variant (rsID / SNP)

rs5126

rs5126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOC2, APOC4-APOC2. Location: chromosome 19, position 45,452,429. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

APOC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:45452429
Cytoband: 19q13.32
HGVS: NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)
Allele change: Silent

Associated conditions / phenotypes

APOLIPOPROTEIN C-II (AFRICAN)|Familial apolipoprotein C-II 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.