NM_005989.4(AKR1D1):c.*1288A>C AND Congenital bile acid synthesis defect 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000402846.5
Allele description [Variation Report for NM_005989.4(AKR1D1):c.*1288A>C]
NM_005989.4(AKR1D1):c.*1288A>C
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023