NM_000373.4(UMPS):c.449T>A (p.Ile150Lys) AND Hereditary orotic aciduria, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001217980.6
Allele description [Variation Report for NM_000373.4(UMPS):c.449T>A (p.Ile150Lys)]
NM_000373.4(UMPS):c.449T>A (p.Ile150Lys)
Condition(s)
- Name:
- Hereditary orotic aciduria, type 1
- Identifiers:
- MedGen: C0268130
Assertion and evidence details
Last Updated: Feb 28, 2024