NM_000383.4(AIRE):c.733A>G (p.Lys245Glu) AND Polyglandular autoimmune syndrome, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003637648.1
Allele description
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
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 28, 2024