Variant (rsID / SNP)
rs121908039
rs121908039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,216,133. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LDLRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:11216133
- Cytoband
- 19p13.2
- HGVS
- NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)
- Allele change
- Silent
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.