RGD:151869406 Rat Genome Database

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Variant: RGD:151869406 -  Homo sapiens

RGD ID: 151869406
RS ID: rs979148208
ClinVar ID: CV1511005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 6,067,916
GRCh38 10 6,025,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000417.3:c.137T>C
NM_001308242.2:c.137T>C
NM_001308243.2:c.137T>C
LRG_73:g.41357T>C
More... 		08/27/2021 missense 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_001308243
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTTLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPDFQIQTEMAATMETSIFTTEYQVAVAGCVFLLISVLLL
SGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_000417
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTTLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALH
RGPAESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
VAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308242
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTTLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMET
SIFTTEYQVAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001998136 CLINVAR
dbSNP (RS) rs979148208 CLINVAR
MedGen C1853392 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR