Variant (rsID / SNP)

rs778284147

rs778284147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,210,970. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LDLRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:11210970
Cytoband: 19p13.2
HGVS: NM_000527.5(LDLR):c.139G>C (p.Asp47His)
Allele change: Missense_D47N

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.