NM_024589.3(ROGDI):c.696-26_696-14del AND Amelocerebrohypohidrotic syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002118631.5
Allele description [Variation Report for NM_024589.3(ROGDI):c.696-26_696-14del]
NM_024589.3(ROGDI):c.696-26_696-14del
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
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Homo sapiens ubiquitin specific peptidase 1, mRNA (cDNA clone MGC:57511 IMAGE:64...
Homo sapiens ubiquitin specific peptidase 1, mRNA (cDNA clone MGC:57511 IMAGE:6473568), complete cdsgi|29791615|gb|BC050525.1|Nucleotide
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Chromosome neighbors for GEO Profiles (Select 90832787) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024