NM_001065.4(TNFRSF1A):c.494T>C (p.Val165Ala) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002005248.3
Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.494T>C (p.Val165Ala)]
NM_001065.4(TNFRSF1A):c.494T>C (p.Val165Ala)
Condition(s)
- Name:
- TNF receptor-associated periodic fever syndrome (TRAPS) (FPF)
- Synonyms:
- Familial Hibernian fever; Tumor necrosis factor receptor-associated periodic syndrome; TNF receptor-associated periodic syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007727; MedGen: C1275126; Orphanet: 32960; OMIM: 142680
Assertion and evidence details
Last Updated: Dec 24, 2023