Variant (rsID / SNP)

rs199984328

rs199984328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG5, DYNC2LI1. Location: chromosome 2, position 44,047,175. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCG5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:44047175
Cytoband: 2p21
HGVS: NM_022436.3(ABCG5):c.1528C>G (p.His510Asp)
Allele change: Silent

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.