Variant (rsID / SNP)

rs34754243

rs34754243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG8. Location: chromosome 2, position 44,079,755. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCG8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:44079755
Cytoband: 2p21
HGVS: NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
Allele change: Missense_E238K

Associated conditions / phenotypes

Sitosterolemia|Sitosterolemia 1

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.