RGD:15113223 Rat Genome Database

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Variant: RGD:15113223 -  Homo sapiens

RGD ID: 15113223
RS ID: rs756494592
ClinVar ID: CV775155
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARD11  CARD11-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 2,985,445
GRCh38 7 2,945,811
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032415.7:c.358+8C>T
NG_027759.1:g.103065C>T
NC_000007.14:g.2945811G>A
NC_000007.13:g.2985445G>A
More... 		05/31/2018 intron variant likely benign B-cell expansion with NFKB and T-cell anergy; BENTA disease; Immunodeficiency 11; IMMUNODEFICIENCY 11A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARD11
Accession:NM_032415
Location:INTRON

Gene Symbol:CARD11
Accession:NM_001324281
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:CARD11-AS1
Accession:NR_187443
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001869320 CLINVAR
dbSNP (RS) rs756494592 CLINVAR
MedGen C3554686 CLINVAR
NCBI Gene CARD11 CLINVAR
  CARD11-AS1 CLINVAR
OMIM 607210 CLINVAR
  615206 CLINVAR
  616452 CLINVAR