RGD:28908323 Rat Genome Database

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Variant: RGD:28908323 -  Homo sapiens

RGD ID: 28908323
RS ID: rs45614033
ClinVar ID: CV867107
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3G  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,224,366
GRCh38 11 118,353,651
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_39t1:c.*551C>T
NM_000073.3:c.*551C>T
LRG_39:g.14308C>T
NG_007566.1:g.14308C>T
More... 		01/13/2018 3 prime utr variant uncertain significance CD3-GAMMA DEFICIENCY; Immunodeficiency 17; Immunodeficiency 17, CD3 gamma deficient; SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD3G
Accession:XM_006718941
Location:3UTRS;EXON

Gene Symbol:CD3G
Accession:NM_000073
Location:3UTRS;EXON

Gene Symbol:CD3G
Accession:XM_005271724
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001107758 CLINVAR
dbSNP (RS) rs45614033 CLINVAR
MedGen C3810107 CLINVAR
NCBI Gene CD3G CLINVAR
OMIM 186740 CLINVAR
  615607 CLINVAR