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Variant (rsID / SNP)

rs145164937

ABCG5

rs145164937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG5. Location: chromosome 2, position 44,059,195. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCG5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:44059195
Cytoband
2p21
HGVS
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
Allele change
Missense_A98G

Associated conditions / phenotypes

Sitosterolemia|Sitosterolemia 1|Hyperuricemic nephropathy, familial juvenile type 4

Public references

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