RGD:13485447 Rat Genome Database

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Variant: RGD:13485447 -  Homo sapiens

RGD ID: 13485447
RS ID: rs371136111
ClinVar ID: CV442314
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIRE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,714,273
GRCh38 21 44,294,390
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_18:g.13511C>T
NC_000021.8:g.45714273C>T
NG_009556.1:g.13511C>T
NM_000383.2:c.1401-11C>T
More...
04/03/2020 intron variant benign AllHighlyPenetrant; 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:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518736 CLINVAR
  RCV001511668 CLINVAR
dbSNP (RS) rs371136111 CLINVAR
MedGen C0085859 CLINVAR
  CN169374 CLINVAR
NCBI Gene AIRE CLINVAR
OMIM 240300 CLINVAR
  607358 CLINVAR
SNOMED CT 11244009 CLINVAR