RGD:38464647 Rat Genome Database

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Variant: RGD:38464647 -  Homo sapiens

RGD ID: 38464647
RS ID: rs183204825
ClinVar ID: CV940519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,320,404
GRCh38 21 44,900,489
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127491.3:c.742-14C>A
NM_000211.5:c.742-14C>A
LRG_76:g.33350C>A
NG_007270.2:g.33350C>A
More... 		08/08/2019 intron variant pathogenic 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:NM_001303238
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_001127491
Location:INTRON

Gene Symbol:ITGB2
Accession:XM_006724001
Location:INTRON

Gene Symbol:ITGB2
Accession:XM_047440763
Location:INTRON

Gene Symbol:ITGB2
Accession:NM_000211
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1346613   PMID:11882363   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001212520 CLINVAR
dbSNP (RS) rs183204825 CLINVAR
MedGen C0398738 CLINVAR
NCBI Gene ITGB2 CLINVAR
OMIM 116920 CLINVAR
  600065 CLINVAR