Variant (rsID / SNP)

rs753248521

rs753248521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,222,199. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LDLRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:11222199
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly)
Allele change: Missense_E230G

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.