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Variant (rsID / SNP)

rs121908030

LDLR

rs121908030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDLR. Location: chromosome 19, position 11,218,160. 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
19:11218160
Cytoband
19p13.2
HGVS
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
Allele change
Missense_D177N

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Inborn genetic diseases|Familial hypercholesterolemia|Homozygous familial hypercholesterolemia|Hypercholesterolemia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.