NM_000312.4(PROC):c.76G>A (p.Val26Met) AND Reduced protein C activity
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000851876.1
Allele description [Variation Report for NM_000312.4(PROC):c.76G>A (p.Val26Met)]
NM_000312.4(PROC):c.76G>A (p.Val26Met)
Condition(s)
- Name:
- Reduced protein C activity
- Identifiers:
- MeSH: D020151; MedGen: C0398625; Human Phenotype Ontology: HP:0005543
-
Homo sapiens Josephin domain containing 2 (JOSD2), transcript variant 3, mRNA
Homo sapiens Josephin domain containing 2 (JOSD2), transcript variant 3, mRNAgi|1890266945|ref|NM_001270641.2|Nucleotide
-
Abnormal corneal epithelium morphology
Abnormal corneal epithelium morphologyMedGen
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Last Updated: Jun 10, 2023