RGD:11662728 Rat Genome Database

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Variant: RGD:11662728 -  Homo sapiens

RGD ID: 11662728
RS ID: rs886057118
ClinVar ID: CV350803
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,311,921
GRCh38 21 44,892,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_76t1:c.1225-10T>A
LRG_76:g.41833T>A
NG_007270.2:g.41833T>A
NC_000021.9:g.44892006A>T
More... 		06/14/2016 intron variant uncertain significance LAD 1; LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LFA 1 immunodeficiency; Lymphocyte function-associated antigen 1 immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITGB2
Accession:XM_006724001
Location:INTRON

Gene Symbol:ITGB2
Accession:XM_047440763
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_001303238
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_001127491
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_000211
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000388795 CLINVAR
dbSNP (RS) rs886057118 CLINVAR
MedGen C0398738 CLINVAR
NCBI Gene ITGB2 CLINVAR
OMIM 116920 CLINVAR
  600065 CLINVAR