NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr) AND Amelocerebrohypohidrotic syndrome
- 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:
- RCV001902416.3
Allele description [Variation Report for NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr)]
NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr)
Condition(s)
- Name:
- Amelocerebrohypohidrotic syndrome (KTZS)
- Synonyms:
- EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA; Kohlschutter Tonz syndrome; Epilepsy dementia amelogenesis imperfecta; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009185; MedGen: C0406740; Orphanet: 1946; OMIM: 226750
Assertion and evidence details
Last Updated: Feb 14, 2024