RGD:11581399 Rat Genome Database

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Variant: RGD:11581399 -  Homo sapiens

RGD ID: 11581399
RS ID: rs141994679
ClinVar ID: CV280565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NLRP3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 247,581,570
GRCh38 1 247,418,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_197t1:c.-527C>G
LRG_197:g.7096C>G
NG_007509.2:g.7096C>G
NC_000001.11:g.247418268C>G
More... 		01/12/2018 5 prime utr variant uncertain significance childhood|infancy Chronic Infantile Neurological Cutaneous Articular syndrome; CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3; Familial cold inflammatory syndrome 1; Infantile Onset Multisystem Inflammatory Disease; MUCKLE-WELLS SYNDROME; Neonatal Onset Multisystem Inflammatory Disease; Prieur Griscelli syndrome; UDA syndrome; Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NLRP3
Accession:NM_001243133
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443535
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443546
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_024452862
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443557
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:NM_001079821
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:NM_001127462
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443582
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443534
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_017000182
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443578
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443562
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443539
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443533
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:NM_183395
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:NM_001127461
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:NM_004895
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_024452874
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_047443571
Location:5UTRS;EXON

Gene Symbol:NLRP3
Accession:XM_017000181
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273623 CLINVAR
  RCV000308710 CLINVAR
  RCV000368184 CLINVAR
dbSNP (RS) rs141994679 CLINVAR
MedGen C0268390 CLINVAR
  C0409818 CLINVAR
  C4551895 CLINVAR
NCBI Gene NLRP3 CLINVAR
OMIM 120100 CLINVAR
  191900 CLINVAR
  606416 CLINVAR
  607115 CLINVAR
SNOMED CT 15123008 CLINVAR
  239826001 CLINVAR