NM_013319.3(UBIAD1):c.*904T>C AND Schnyder crystalline corneal dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294531.5
Allele description [Variation Report for NM_013319.3(UBIAD1):c.*904T>C]
NM_013319.3(UBIAD1):c.*904T>C
Condition(s)
- Name:
- Schnyder crystalline corneal dystrophy (SCCD)
- Synonyms:
- Corneal dystrophy crystalline of Schnyder; Schnyder corneal dystrophy; Crystalline corneal dystrophy
- Identifiers:
- MONDO: MONDO:0007374; MedGen: C0271287; Orphanet: 98967; OMIM: 121800; Human Phenotype Ontology: HP:0007760
-
USP43 ubiquitin specific peptidase 43 [Homo sapiens]
USP43 ubiquitin specific peptidase 43 [Homo sapiens]Gene ID:124739Gene
-
Gene Links for GEO Profiles (Select 65361573) (1)
Gene
-
Hoxa11/Hoxd11 null mutation effect on embryonic kidney development (MG-430B)
Hoxa11/Hoxd11 null mutation effect on embryonic kidney development (MG-430B)Accession: GDS2031GEO DataSets
-
Related DataSets for GEO Profiles (Select 23967125) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023