NM_000383.4(AIRE):c.539-9C>A AND Polyglandular autoimmune syndrome, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003523904.1
Allele description [Variation Report for NM_000383.4(AIRE):c.539-9C>A]
NM_000383.4(AIRE):c.539-9C>A
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
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Homo sapiens cDNA FLJ37424 fis, clone BRAWH2001492
Homo sapiens cDNA FLJ37424 fis, clone BRAWH2001492gi|21753859|dbj|AK094743.1|Nucleotide
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Homo sapiens, clone IMAGE:3638955, mRNA, partial cds
Homo sapiens, clone IMAGE:3638955, mRNA, partial cdsgi|14550541|gb|BC009521.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024