RGD:10056127 Rat Genome Database

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Variant: RGD:10056127 -  Homo sapiens

RGD ID: 10056127
RS ID: rs796051888
ClinVar ID: CV199918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 6,067,931
GRCh38 10 6,025,968
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_73:g.41342A>C
NG_007403.1:g.41342A>C
NC_000010.11:g.6025968T>G
NC_000010.10:g.6067931T>G
More... 		07/15/2015 missense variant pathogenic neonatal/infancy <1 / 1 000 000 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_001308242
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMASKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMET
SIFTTEYQVAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308243
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMASKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPDFQIQTEMAATMETSIFTTEYQVAVAGCVFLLISVLLL
SGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_000417
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMASKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALH
RGPAESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
VAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*
Variant Samples
Additional References at PubMed
PMID:24116927  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000185642 CLINVAR
dbSNP (RS) rs796051888 CLINVAR
MedGen C1853392 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR
OMIM Allele 147730.0007 CLINVAR