Variant (rsID / SNP)

rs137943601

rs137943601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,223,989. 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: 19:11223989
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
Allele change: Missense_E281K

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Homozygous familial hypercholesterolemia|Familial hypercholesterolemia|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.