Variant (rsID / SNP)

rs879255149

rs879255149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,233,855. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LDLRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:11233855
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)
Allele change: Missense_E538K

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.