Variant (rsID / SNP)

rs199841445

rs199841445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,850,337. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCB11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:169850337
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
Allele change: Missense_R223C

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.