NM_004562.3(PRKN):c.*140A>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497583.1
Allele description [Variation Report for NM_004562.3(PRKN):c.*140A>G]
NM_004562.3(PRKN):c.*140A>G
Condition(s)
- Name:
- Autosomal recessive juvenile Parkinson disease 2
- Synonyms:
- Parkinson disease, juvenile, autosomal recessive; Parkinson disease autosomal recessive, early onset; Juvenile parkinsonism; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010820; MedGen: C1868675; Orphanet: 2828; OMIM: 600116
- Name:
- Ovarian neoplasm
- Synonyms:
- Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
- Identifiers:
- MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615
Assertion and evidence details
Last Updated: Jul 15, 2024