Variant (rsID / SNP)

rs150572999

rs150572999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,820,793. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCB11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:169820793
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
Allele change: Missense_S701P

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.