NM_000371.4(TTR):c.349G>T (p.Ala117Ser) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496359.1
Allele description [Variation Report for NM_000371.4(TTR):c.349G>T (p.Ala117Ser)]
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
Condition(s)
- Name:
- Hyperthyroxinemia, dystransthyretinemic
- Synonyms:
- HYPERTHYROXINEMIA, DYSPREALBUMINEMIC; Dystransthyretinemic euthyroidal hyperthyroxinemia; EUTHRYROIDAL HYPERTHYROXINEMIA 2
- Identifiers:
- MONDO: MONDO:0007785; MedGen: C2750824; OMIM: 145680
- Name:
- Familial amyloid neuropathy
- Synonyms:
- Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; TTR amyloid neuropathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007100; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210
Assertion and evidence details
Last Updated: May 1, 2024