RGD:13789276 Rat Genome Database

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Variant: RGD:13789276 -  Homo sapiens

RGD ID: 13789276
RS ID: rs138489664
ClinVar ID: CV549430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIRE  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 45,709,686
GRCh38 21 44,289,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_18:g.8924G>C
NC_000021.9:g.44289803G>C
NG_009556.1:g.8924G>C
NC_000021.8:g.45709686G>C
More... 		10/03/2021 splice donor variant likely pathogenic APS 1; APS I; Autoimmune polyendocrine syndrome type 1; AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; Autoimmune polyendocrinopathy syndrome, type I; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; PGA 1; PGA I; Whitaker syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AIRE
Accession:NM_000383
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11524731   PMID:16199547   PMID:26141571   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665889 CLINVAR
dbSNP (RS) rs138489664 CLINVAR
MedGen C0085859 CLINVAR
NCBI Gene AIRE CLINVAR
OMIM 240300 CLINVAR
  607358 CLINVAR
SNOMED CT 11244009 CLINVAR