Variant (rsID / SNP)

rs797045253

rs797045253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,225,269. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

APOBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 2:21225269
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.13025del (p.Pro4342fs)

Associated conditions / phenotypes

Hypobetalipoproteinemia

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.