RGD:38457340 Rat Genome Database

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Variant: RGD:38457340 -  Homo sapiens

RGD ID: 38457340
RS ID: rs1282558220
ClinVar ID: CV939665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,330,809
GRCh38 X 71,110,959
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009088.1:g.5595C>A
NG_021141.1:g.830C>A
NC_000023.11:g.71110959G>T
NP_000197.1:p.Tyr69Ter
More... 		09/13/2019 nonsense pathogenic 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:NM_000206
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVE*MNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAES
LQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET*

Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVE*MNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKGRCPEFPP*
Variant Samples
Additional References at PubMed
PMID:9058718   PMID:10794430   PMID:19398866   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001211090 CLINVAR
dbSNP (RS) rs1282558220 CLINVAR
MedGen C1279481 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
SNOMED CT 203592006 CLINVAR