Variant (rsID / SNP)

rs112954220

rs112954220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,231,146. Clinical significance in the table: Pathogenic.

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Reference-table entries

LDLRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:11231146
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter)
Allele change: Silent

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.