NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) AND Parkinson disease, late-onset
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001836930.10
Allele description [Variation Report for NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)]
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
Condition(s)
- Name:
- Parkinson disease, late-onset (PD)
- Synonyms:
- Parkinson's disease; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Susceptibility to Parkinson's Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008199; MedGen: C3160718; OMIM: 168600
Assertion and evidence details
Last Updated: Aug 4, 2024