Variant (rsID / SNP)

rs1057518647

rs1057518647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,242,600. 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: 2:21242600
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)

Associated conditions / phenotypes

Familial hypobetalipoproteinemia 1|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.