RGD:8598457 Rat Genome Database

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Variant: RGD:8598457 -  Homo sapiens

RGD ID: 8598457
RS ID: rs111033618
ClinVar ID: CV25066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,329,171
GRCh38 X 71,109,321
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_150t1:c.664C>T
LRG_150:g.7233C>T
NG_009088.1:g.7233C>T
NC_000023.11:g.71109321G>A
More...
11/14/2023 missense|missense variant pathogenic IMMUNODEFICIENCY 4; IMMUNODEFICIENCY 6; 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: R to C (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFCVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAES
LQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET*

Gene Symbol:IL2RG
Accession:XM_047442089
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEP
QPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENL
TLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFCVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKGRCPEFPP*

Variant Samples
Additional References at PubMed
PMID:7557965   PMID:7668284   PMID:9399950   PMID:10794431   PMID:16227049   PMID:20301584   PMID:23683512   PMID:25042067   PMID:25741868   PMID:28492532   PMID:29948574   PMID:31965297  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000010710 CLINVAR
  RCV000622428 CLINVAR
  RCV001383439 CLINVAR
dbSNP (RS) rs111033618 CLINVAR
MedGen C0950123 CLINVAR
  C1279481 CLINVAR
  CN030319 CLINVAR
NCBI Gene IL2RG CLINVAR
OMIM 300400 CLINVAR
  308380 CLINVAR
  312863 CLINVAR
OMIM Allele 308380.0012 CLINVAR
SNOMED CT 203592006 CLINVAR