RGD:28905843 Rat Genome Database

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Variant: RGD:28905843 -  Homo sapiens

RGD ID: 28905843
RS ID: rs1839186433
ClinVar ID: CV866014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 6,053,192
GRCh38 10 6,011,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_73t1:c.*1643C>A
NM_000417.3:c.*1643C>A
NM_001308242.2:c.*1643C>A
NM_001308243.2:c.*1643C>A
More...
01/13/2018 3 prime utr variant uncertain significance IL2RA DEFICIENCY; IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; Interleukin 2 receptor, alpha, deficiency of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RA
Accession:NM_000417
Location:3UTRS;EXON

Gene Symbol:IL2RA
Accession:NM_001308243
Location:3UTRS;EXON

Gene Symbol:IL2RA
Accession:NM_001308242
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106295 CLINVAR
dbSNP (RS) rs1839186433 CLINVAR
MedGen C1853392 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR