Variant (rsID / SNP)
rs754676104
rs754676104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,210,969. Clinical significance in the table: Pathogenic.
Reference-table entries
LDLRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:11210969
- Cytoband
- 19p13.2
- HGVS
- NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)
- Allele change
- Nonsense_C46X
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.