NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) AND Miller syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000291096.5
Allele description [Variation Report for NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys)]
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys)
Condition(s)
- Name:
- Miller syndrome (POADS)
- Synonyms:
- Genee-Wiedemann syndrome; Genee-Wiedemann acrofacial dysostosis; Wildervanck-Smith syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009903; MedGen: C0265257; Orphanet: 246; OMIM: 263750
Assertion and evidence details
Last Updated: Apr 9, 2023