Variant (rsID / SNP)
rs5742911
rs5742911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,243,445. Clinical significance in the table: Benign.
Reference-table entries
LDLRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:11243445
- Cytoband
- 19p13.2
- HGVS
- NM_000527.5(LDLR):c.*1453A>G
- 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.