Variant (rsID / SNP)

rs2287617

rs2287617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,847,323. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCB11Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:169847323
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
Allele change: Missense_R299K

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 2

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.