NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu) AND Schnyder crystalline corneal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098379.5
Allele description [Variation Report for NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)]
NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)
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
-
Streptomyces sp. NRRL S-149 genomic scaffold P203_Doro1_scaffold1, whole genome ...
Streptomyces sp. NRRL S-149 genomic scaffold P203_Doro1_scaffold1, whole genome shotgun sequencegi|662119239|gnl|WGS:JOBJ01|P203_Do caffold1|gb|KL578351.1|Nucleotide
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Last Updated: Sep 29, 2024