RGD:15126022 Rat Genome Database

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Variant: RGD:15126022 -  Homo sapiens

RGD ID: 15126022
RS ID: rs775704953
ClinVar ID: CV774189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,330,527
GRCh38 X 71,110,677
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000206.3:c.281C>T
NG_021141.1:g.1112C>T
NG_009088.1:g.5877C>T
NC_000023.11:g.71110677G>A
More... 		12/23/2023 missense variant benign|likely benign|uncertain significance IMMUNODEFICIENCY 4; Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative; T-B+ severe combined immunodeficiency due to gamma chain deficiency; X-Linked Combined Immunodeficiency Diseases
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNLDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKGRCPEFPP*

Gene Symbol:IL2RG
Accession:NM_000206
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNLDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAES
LQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000941304 CLINVAR
  RCV003372919 CLINVAR
  RCV003895722 CLINVAR
dbSNP (RS) rs775704953 CLINVAR
MedGen C0950123 CLINVAR
  C1279481 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
SNOMED CT 203592006 CLINVAR