Variant (rsID / SNP)
rs879254363
rs879254363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,200,040. Clinical significance in the table: Likely pathogenic.
Reference-table entries
LDLRLikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:11200040
- Cytoband
- 19p13.2
- HGVS
- NR_163945.1(LDLR-AS1):n.295_297del
Associated conditions / phenotypes
Hypercholesterolemia, familial, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.