NM_001065.4(TNFRSF1A):c.732C>T (p.Tyr244=) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003623995.2
Allele description [Variation Report for NM_001065.4(TNFRSF1A):c.732C>T (p.Tyr244=)]
NM_001065.4(TNFRSF1A):c.732C>T (p.Tyr244=)
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
-
Rattus norvegicus gamma-aminobutyric acid type A receptor subunit beta 2 (Gabrb2...
Rattus norvegicus gamma-aminobutyric acid type A receptor subunit beta 2 (Gabrb2), transcript variant 1, mRNAgi|2726160440|ref|NM_012957.3|Nucleotide
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Generalized hyperreflexia
Generalized hyperreflexiaMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024