NM_025193.4(HSD3B7):c.558G>A (p.Thr186=) AND Congenital bile acid synthesis defect 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003133582.3
Allele description [Variation Report for NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)]
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024