NM_000532.5(PCCB):c.1398+18T>C AND Propionic acidemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003879457.1
Allele description [Variation Report for NM_000532.5(PCCB):c.1398+18T>C]
NM_000532.5(PCCB):c.1398+18T>C
Condition(s)
- Name:
- Propionic acidemia (PROP)
- Synonyms:
- Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia
- Identifiers:
- MONDO: MONDO:0011628; MedGen: C0268579; Orphanet: 35; OMIM: 606054; Human Phenotype Ontology: HP:0003571
-
brca2 BRCA2 DNA repair associated [Danio rerio]
brca2 BRCA2 DNA repair associated [Danio rerio]Gene ID:566758Gene
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Last Updated: Mar 5, 2024