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: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
Source Database: ClinVar
Description: NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
ClinVar Allele ID: 18348
ClinVar RefSeq Alternation Syntax: NM_000383.4:c.967_979del
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2009-11-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000003473
ClinVar Disease: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
Observed Origin Sample: germline
Pubmed: 9921903
Pubmed: 10720083
Pubmed: 17118990
Pubmed: 28323927
Pubmed: 9837820
Pubmed: 11524731
Pubmed: 19807739
Pubmed: 9888391
Pubmed: 17539912
Pubmed: 14557425
Pubmed: 35521792
Pubmed: 6031738
Pubmed: 9398840

Drugs