RGD:15127089 Rat Genome Database

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Variant: RGD:15127089 -  Homo sapiens

RGD ID: 15127089
RS ID: rs142807857
ClinVar ID: CV743455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,330,526
GRCh38 X 71,110,676
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.282G>A
NG_021141.1:g.1113G>A
NG_009088.1:g.5878G>A
NC_000023.11:g.71110676C>T
More... 		02/18/2019 synonymous variant benign 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: S to S (synonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAES
LQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET*

Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKGRCPEFPP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000897046 CLINVAR
dbSNP (RS) rs142807857 CLINVAR
MedGen C1279481 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
SNOMED CT 203592006 CLINVAR