NM_000371.4(TTR):c.212A>C (p.Glu71Ala) AND Familial amyloid neuropathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003098640.2
Allele description [Variation Report for NM_000371.4(TTR):c.212A>C (p.Glu71Ala)]
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
Condition(s)
- Name:
- Familial amyloid neuropathy
- Synonyms:
- Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; TTR amyloid neuropathy; See all synonyms [MedGen]
- Identifiers:
- MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210
Assertion and evidence details
Last Updated: May 12, 2024