NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) AND Polyglandular autoimmune syndrome, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001229640.5
Allele description [Variation Report for NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr)]
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr)
Condition(s)
- Name:
- Polyglandular autoimmune syndrome, type 1 (APS1)
- Synonyms:
- AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS I; PGA I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009411; MedGen: C0085859; Orphanet: 3453; OMIM: 240300
Assertion and evidence details
Last Updated: Feb 7, 2023