NM_000371.4(TTR):c.75C>T (p.Thr25=) AND Amyloidosis, hereditary systemic 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001484651.6
Allele description [Variation Report for NM_000371.4(TTR):c.75C>T (p.Thr25=)]
NM_000371.4(TTR):c.75C>T (p.Thr25=)
Condition(s)
- Name:
- Amyloidosis, hereditary systemic 1 (AMYLD1)
- Synonyms:
- Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; Transthyretin amyloidosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0971004; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210
Assertion and evidence details
Last Updated: Aug 25, 2024