NM_000383.4(AIRE):c.464-16del AND Polyglandular autoimmune syndrome, type 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003522443.1
Allele description
NM_000383.4(AIRE):c.464-16del
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
-
Homo sapiens claudin 15, mRNA (cDNA clone MGC:19536 IMAGE:3677931), complete cds
Homo sapiens claudin 15, mRNA (cDNA clone MGC:19536 IMAGE:3677931), complete cdsgi|14603420|gb|BC010160.1|Nucleotide
-
Homo sapiens protein kinase C eta (PRKCH), mRNA
Homo sapiens protein kinase C eta (PRKCH), mRNAgi|1928917114|ref|NM_006255.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024