NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) AND Progressive supranuclear ophthalmoplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000662119.5
Allele description [Variation Report for NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)]
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)
Condition(s)
- Name:
- Progressive supranuclear ophthalmoplegia
- Synonyms:
- Familial progressive supranuclear palsy (type)
- Identifiers:
- MedGen: C4551862
Assertion and evidence details
Last Updated: Feb 20, 2024