Variant (rsID / SNP)
rs879254794
rs879254794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,222,242. Clinical significance in the table: Pathogenic.
Reference-table entries
LDLRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Insertion
- Chromosome / position
- 19:11222242
- Cytoband
- 19p13.2
- HGVS
- NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs)
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.