Variant (rsID / SNP)

rs137852991

rs137852991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG8. Location: chromosome 2, position 44,100,948. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCG8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:44100948
Cytoband: 2p21
HGVS: NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
Allele change: Nonsense_R412X

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.