Variant (rsID / SNP)

rs113090017

rs113090017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR1H4. Location: chromosome 12, position 100,926,316. Clinical significance in the table: Pathogenic.

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Reference-table entries

NR1H4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:100926316
Cytoband: 12q23.1
HGVS: NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)
Allele change: Synonymous_R176R

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 1|Cholestasis, progressive familial intrahepatic, 5

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.