RGD:11601637 Rat Genome Database

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Variant: RGD:11601637 -  Homo sapiens

RGD ID: 11601637
RS ID: rs140088691
ClinVar ID: CV315726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  LOC124902368  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 6,060,023
GRCh38 10 6,018,060
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
NP_000408.1:p.Arg263Trp
LRG_73t1:c.787C>T
LRG_73:g.49250C>T
NG_007403.1:g.49250C>T
More... 		02/11/2020 missense variant uncertain significance infancy <1 / 1 000 000 IL2RA DEFICIENCY; IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; Interleukin 2 receptor, alpha, deficiency of; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RA
Accession:NM_001308242
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMET
SIFTTEYQVAVAGCVFLLISVLLLSGLTWQWRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308243
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPDFQIQTEMAATMETSIFTTEYQVAVAGCVFLLISVLLL
SGLTWQWRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_000417
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 263
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALH
RGPAESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
VAVAGCVFLLISVLLLSGLTWQWRQRKSRRTI*

Gene Symbol:LOC124902368
Accession:XR_007062042
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000284134 CLINVAR
  RCV000994347 CLINVAR
dbSNP (RS) rs140088691 CLINVAR
MedGen C1853392 CLINVAR
  C3661900 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR