NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr) AND Amelocerebrohypohidrotic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001352410.7
Allele description [Variation Report for NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr)]
NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr)
Condition(s)
- Name:
- Amelocerebrohypohidrotic syndrome (KTZS)
- Synonyms:
- EPILEPSY AND YELLOW TEETH; EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA; KOHLSCHUTTER SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009185; MedGen: C0406740; Orphanet: 1946; OMIM: 226750
Assertion and evidence details
Last Updated: Jan 13, 2025