Variant (rsID / SNP)

rs147998447

rs147998447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,079,357. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCB4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:87079357
Cytoband: 7q21.12
HGVS: NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr)
Allele change: Missense_A254T

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.