NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) AND Hereditary orotic aciduria, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001340094.7
Allele description [Variation Report for NM_000373.4(UMPS):c.1157C>T (p.Ala386Val)]
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val)
Condition(s)
- Name:
- Hereditary orotic aciduria, type 1
- Identifiers:
- MedGen: C0268130
Assertion and evidence details
Last Updated: May 12, 2024