Variant (rsID / SNP)

rs52815063

rs52815063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1L1. Location: chromosome 7, position 44,555,699. Clinical significance in the table: Likely benign.

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Reference-table entries

NPC1L1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:44555699
Cytoband: 7p13
HGVS: NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn)
Allele change: Missense_I1206N

Associated conditions / phenotypes

Ezetimibe response

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.