NM_000383.4(AIRE):c.538+7G>A AND Polyglandular autoimmune syndrome, type 1
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000930453.10
Allele description [Variation Report for NM_000383.4(AIRE):c.538+7G>A]
NM_000383.4(AIRE):c.538+7G>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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Mus musculus dynein axonemal assembly factor 4 (Dnaaf4), transcript variant 1, m...
Mus musculus dynein axonemal assembly factor 4 (Dnaaf4), transcript variant 1, mRNAgi|255683352|ref|NM_026314.3|Nucleotide
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AGENCOURT_10748382 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6326651 ...
AGENCOURT_10748382 Wellcome CRC pSK egg Xenopus laevis cDNA clone IMAGE:6326651 5', mRNA sequencegi|27506807|gnl|dbEST|16560138|gb|C 53.1|Nucleotide
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Last Updated: Sep 29, 2024