NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser) AND Congenital bile acid synthesis defect 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003989521.2
Allele description [Variation Report for NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser)]
NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser)
Condition(s)
-
Evidence review for preoperative risk stratification tools
Evidence review for preoperative risk stratification tools
-
Homo sapiens UDP glycosyltransferase family 3 member A2 (UGT3A2), transcript var...
Homo sapiens UDP glycosyltransferase family 3 member A2 (UGT3A2), transcript variant 1, mRNAgi|1519244193|ref|NM_174914.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024