NM_000431.4(MVK):c.1143A>C (p.Ser381=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003797609.1
Allele description [Variation Report for NM_000431.4(MVK):c.1143A>C (p.Ser381=)]
NM_000431.4(MVK):c.1143A>C (p.Ser381=)
Condition(s)
- Name:
- Mevalonic aciduria (MEVA)
- Identifiers:
- MONDO: MONDO:0012481; MedGen: C1959626; Orphanet: 29; OMIM: 610377
- Name:
- Porokeratosis 3, disseminated superficial actinic type (DSAP1)
- Synonyms:
- Porokeratosis, disseminated superficial actinic 1; POROKERATOSIS 3, MULTIPLE TYPES; POROKERATOSIS 3, MIBELLI TYPE
- Identifiers:
- MONDO: MONDO:0008293; MedGen: C1867981; OMIM: 175900
- 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: Mar 5, 2024