RGD:13822503 Rat Genome Database

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Variant: RGD:13822503 -  Homo sapiens

RGD ID: 13822503
RS ID: rs765125933
ClinVar ID: CV561544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARD11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 2,949,679
GRCh38 7 2,910,045
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027759.1:g.138831G>A
NC_000007.14:g.2910045C>T
NC_000007.13:g.2949679C>T
LRG_729t1:c.3260+5G>A
More... 		04/16/2018 intron variant uncertain significance 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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000697386 CLINVAR
dbSNP (RS) rs765125933 CLINVAR
MedGen C3554686 CLINVAR
NCBI Gene CARD11 CLINVAR
OMIM 607210 CLINVAR
  615206 CLINVAR
  616452 CLINVAR