NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg) AND Autosomal recessive juvenile Parkinson disease 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001780174.4
Allele description [Variation Report for NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)]
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)
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
-
txid1444256[Organism:noexp] (2)
BioProject
-
txid1457707[Organism:noexp] (38)
Identical Protein Groups
-
unnamed protein product [Aspergillus niger]
unnamed protein product [Aspergillus niger]gi|134081888|emb|CAK42143.1|Protein
-
1717832[uid] (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024