Variant (rsID / SNP)

rs119480069

rs119480069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG5, DYNC2LI1. Location: chromosome 2, position 44,051,210. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCG5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:44051210
Cytoband: 2p21
HGVS: NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)
Allele change: Silent

Associated conditions / phenotypes

Sitosterolemia 2|Sitosterolemia

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.