NM_000431.4(MVK):c.987C>A (p.Ser329Arg) AND Hyperimmunoglobulin D with periodic fever
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000083894.2
Allele description [Variation Report for NM_000431.4(MVK):c.987C>A (p.Ser329Arg)]
NM_000431.4(MVK):c.987C>A (p.Ser329Arg)
Condition(s)
- Name:
- Hyperimmunoglobulin D with periodic fever (HIDS)
- Synonyms:
- Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever Dutch type; Hyperimmunoglobulinemia D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009849; MedGen: C0398691; Orphanet: 343; OMIM: 260920
Assertion and evidence details
Last Updated: Jun 23, 2024