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Variant (rsID / SNP)

rs121918342

AKR1D1

rs121918342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKR1D1. Location: chromosome 7, position 137,791,367. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AKR1D1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:137791367
Cytoband
7q33
HGVS
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
Allele change
Missense_P198L

Associated conditions / phenotypes

Congenital bile acid synthesis defect 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.