Variant (rsID / SNP)
rs138477254
rs138477254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,233,991. 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
- 19:11233991
- Cytoband
- 19p13.2
- HGVS
- NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
- Allele change
- Missense_T583M
Associated conditions / phenotypes
Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.