RGD:11614313 Rat Genome Database

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Variant: RGD:11614313 -  Homo sapiens

RGD ID: 11614313
RS ID: rs192842874
ClinVar ID: CV343145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYLD-AS1  NOD2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 50,766,720
GRCh38 16 50,732,809
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.40671T>C
NG_007508.1:g.40671T>C
NC_000016.10:g.50732809T>C
NC_000016.9:g.50766720T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 Arthrocutaneouveal granulomatosis; 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; Synovitis granulomatous with uveitis and cranial neuropathies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOD2
Accession:XM_017023536
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:XM_047434453
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:XM_047434452
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:XM_006721242
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:NM_001293557
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:NM_001370466
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:XM_047434454
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:NM_022162
Location:3UTRS;EXON

Gene Symbol:NOD2
Accession:XM_017023537
Location:3UTRS;EXON

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

Gene Symbol:NOD2
Accession:XM_006721243
Location:INTRON

Gene Symbol:NOD2
Accession:XM_011523260
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434457
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434455
Location:INTRON

Gene Symbol:NOD2
Accession:XM_047434456
Location:INTRON

Gene Symbol:NOD2
Accession:XM_011523261
Location:INTRON

Gene Symbol:CYLD-AS1
Accession:NR_184274
Location:INTRON;NON-CODING

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

Gene Symbol:CYLD-AS1
Accession:NR_184277
Location:INTRON;NON-CODING

Gene Symbol:CYLD-AS1
Accession:NR_184279
Location:INTRON;NON-CODING

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

Gene Symbol:CYLD-AS1
Accession:NR_184273
Location:INTRON;NON-CODING

Gene Symbol:CYLD-AS1
Accession:NR_184278
Location:INTRON;NON-CODING

Gene Symbol:CYLD-AS1
Accession:NR_184275
Location:INTRON;NON-CODING

Gene Symbol:CYLD-AS1
Accession:NR_184276
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000275918 CLINVAR
  RCV001782850 CLINVAR
dbSNP (RS) rs192842874 CLINVAR
MedGen C5201146 CLINVAR
  CN260071 CLINVAR
NCBI Gene CYLD-AS1 CLINVAR
  NOD2 CLINVAR
OMIM 186580 CLINVAR
  266600 CLINVAR
  605956 CLINVAR