RGD:15155392 Rat Genome Database

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Variant: RGD:15155392 -  Homo sapiens

RGD ID: 15155392
RS ID: rs375921454
ClinVar ID: CV758632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  LOC126863274  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,331,304
GRCh38 X 71,111,454
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.86C>T
NG_021141.1:g.335C>T
NG_009088.1:g.5100C>T
NC_000023.11:g.71111454G>A
More... 		11/30/2018 missense 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: T to M (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILMPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAES
LQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET*

Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILMPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKGRCPEFPP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000924456 CLINVAR
dbSNP (RS) rs375921454 CLINVAR
MedGen C1279481 CLINVAR
NCBI Gene IL2RG CLINVAR
  LOC126863274 CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
SNOMED CT 203592006 CLINVAR