RGD:11627499 Rat Genome Database

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Variant: RGD:11627499 -  Homo sapiens

RGD ID: 11627499
RS ID: rs5030668
ClinVar ID: CV346651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB2  LOC127894995  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,326,815
GRCh38 21 44,906,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_76:g.26939G>A
NG_007270.2:g.26939G>A
NC_000021.9:g.44906900C>T
NC_000021.8:g.46326815C>T
More... 		12/05/2020 intron variant benign AllHighlyPenetrant; LAD 1; LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LFA 1 immunodeficiency; Lymphocyte function-associated antigen 1 immunodeficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITGB2
Accession:NM_001127491
Location:INTRON

Gene Symbol:ITGB2
Accession:XM_047440763
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_000211
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_001303238
Location:INTRON

Gene Symbol:ITGB2
Accession:XM_006724001
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000283277 CLINVAR
  RCV000456084 CLINVAR
  RCV001712128 CLINVAR
dbSNP (RS) rs5030668 CLINVAR
MedGen C0398738 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ITGB2 CLINVAR
OMIM 116920 CLINVAR
  600065 CLINVAR