Variant (rsID / SNP)

rs8187808

rs8187808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,037,521. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCB4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:87037521
Cytoband: 7q21.12
HGVS: NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)
Allele change: Synonymous_N1037N

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.