Variant (rsID / SNP)

rs875989896

rs875989896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,213,462. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LDLRPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 19:11213462
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.313_313+1del

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia

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.