Variant (rsID / SNP)

rs2230028

rs2230028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,056,176. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCB4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:87056176
Cytoband: 7q21.12
HGVS: NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
Allele change: Missense_R652G

Associated conditions / phenotypes

Cholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3

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.