Annotation Detail

Information

Associated Genes: AIRE
Associated Variants: AIRE p.Leu323SerfsTer51 (p.L323Sfs*51) ( ENST00000291582.6 )
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51) ( ENST00000291582.6 )
Associated Disease: Polyglandular autoimmune syndrome, type 1
Source Database: ClinVar
Description: NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND Polyglandular autoimmune syndrome, type 1
ClinVar Allele ID: 18348
ClinVar RefSeq Alternation Syntax: NM_000383.4:c.967_979del
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2024-01-31
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000049635
ClinVar Disease: Polyglandular autoimmune syndrome, type 1
Observed Origin Sample: germline
Observed Origin Sample: not provided
Observed Origin Sample: paternal
Observed Origin Sample: unknown
Pubmed: 9921903
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Pubmed: 9888391
Pubmed: 17539912
Pubmed: 14557425
Pubmed: 35521792
Pubmed: 6031738
Pubmed: 9398840

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