RGD:8569194 Rat Genome Database

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Variant: RGD:8569194 -  Homo sapiens

RGD ID: 8569194
RS ID: rs61737072
ClinVar ID: CV44322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AIRE  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 45,712,983
GRCh38 21 44,293,100
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_18:g.12221T>C
NG_009556.1:g.12221T>C
LRG_18p1:p.Pro401Pro=
NC_000021.9:g.44293100T>C
More... 		10/11/2017 synonymous variant benign|likely benign childhood 1-9 / 1 000 000|1-9 / 100 000 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; none provided; 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: P to P (synonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRV
LFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKA
KPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHL
ACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAP
PSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS*
Variant Samples
Additional References at PubMed
PMID:18414213   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029305 CLINVAR
  RCV000116294 CLINVAR
  RCV000710492 CLINVAR
dbSNP (RS) rs61737072 CLINVAR
MedGen C0085859 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene AIRE CLINVAR
OMIM 240300 CLINVAR
  607358 CLINVAR
SNOMED CT 11244009 CLINVAR