RGD:14729597 Rat Genome Database

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Variant: RGD:14729597 -  Homo sapiens

RGD ID: 14729597
RS ID: rs143952576
ClinVar ID: CV649030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIRE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,708,249
GRCh38 21 44,288,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000383.4:c.560C>T
LRG_18:g.7487C>T
NG_009556.1:g.7487C>T
NC_000021.9:g.44288366C>T
More... 		12/22/2023 missense variant likely benign|uncertain significance 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:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRV
LFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKA
KPPKKPESSAEQQRLPLGNGIQTMSALVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHL
ACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAP
PSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000800560 CLINVAR
  RCV003965594 CLINVAR
dbSNP (RS) rs143952576 CLINVAR
MedGen C0085859 CLINVAR
NCBI Gene AIRE CLINVAR
OMIM 240300 CLINVAR
  607358 CLINVAR
SNOMED CT 11244009 CLINVAR