Variant (rsID / SNP)

rs267606650

rs267606650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKR1D1. Location: chromosome 7, position 137,792,252. Clinical significance in the table: Pathogenic.

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Reference-table entries

AKR1D1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:137792252
Cytoband: 7q33
HGVS: NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys)
Allele change: Missense_R261C

Associated conditions / phenotypes

Congenital bile acid synthesis defect 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.