RGD:11612889 Rat Genome Database

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Variant: RGD:11612889 -  Homo sapiens

RGD ID: 11612889
RS ID: rs201759367
ClinVar ID: CV335185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOD2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 50,750,489
GRCh38 16 50,716,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_177:g.24440T>A
NG_007508.1:g.24440T>A
NC_000016.10:g.50716578T>A
NC_000016.9:g.50750489T>A
More... 		12/31/2019 intron variant benign|likely benign|uncertain significance infancy <1 / 1 000 000 AllHighlyPenetrant; Arthrocutaneouveal granulomatosis; Enteritis, Granulomatous; Granulomatosis, familial juvenile systemic; Granulomatosis, familial, Blau type; Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; Inflammatory bowel disease 1, Crohn disease; Jabs syndrome; none provided; Regional enteritis; Synovitis granulomatous with uveitis and cranial neuropathies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOD2
Accession:XM_047434455
Location:3UTRS;INTRON

Gene Symbol:NOD2
Accession:XM_047434456
Location:INTRON

Gene Symbol:NOD2
Accession:XM_017023537
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434453
Location:INTRON

Gene Symbol:NOD2
Accession:NM_022162
Location:INTRON

Gene Symbol:NOD2
Accession:XM_006721242
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434457
Location:INTRON

Gene Symbol:NOD2
Accession:XM_006721243
Location:INTRON

Gene Symbol:NOD2
Accession:XM_011523261
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434452
Location:INTRON

Gene Symbol:NOD2
Accession:NM_001293557
Location:INTRON

Gene Symbol:NOD2
Accession:XM_017023536
Location:INTRON

Gene Symbol:NOD2
Accession:NM_001370466
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434454
Location:INTRON

Gene Symbol:NOD2
Accession:XM_011523260
Location:INTRON

Gene Symbol:NOD2
Accession:XR_007064895
Location:INTRON;NON-CODING

Gene Symbol:NOD2
Accession:XR_007064894
Location:INTRON;NON-CODING

Gene Symbol:NOD2
Accession:NR_163434
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000355770 CLINVAR
  RCV001000740 CLINVAR
  RCV001764288 CLINVAR
  RCV001782828 CLINVAR
  RCV002261065 CLINVAR
  RCV002521043 CLINVAR
dbSNP (RS) rs201759367 CLINVAR
MedGen C3661900 CLINVAR
  C3890737 CLINVAR
  C5201146 CLINVAR
  CN169374 CLINVAR
  CN260071 CLINVAR
NCBI Gene NOD2 CLINVAR
OMIM 186580 CLINVAR
  266600 CLINVAR
  605956 CLINVAR