RGD:11611247 Rat Genome Database

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Variant: RGD:11611247 -  Homo sapiens

RGD ID: 11611247
RS ID: rs539966138
ClinVar ID: CV321821
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  LOC124902368  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 6,061,449
GRCh38 10 6,019,486
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_73t1:c.669G>A
LRG_73:g.47824G>A
NG_007403.1:g.47824G>A
NC_000010.11:g.6019486C>T
More... 		01/10/2020 synonymous variant conflicting interpretations of pathogenicity|uncertain significance 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_000417
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALH
RGPAESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
VAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308243
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPDFQIQTEMAATMETSIFTTEYQVAVAGCVFLLISVLLL
SGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308242
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMET
SIFTTEYQVAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000392457 CLINVAR
dbSNP (RS) rs539966138 CLINVAR
MedGen C1853392 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR