RGD:28884898 Rat Genome Database

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Variant: RGD:28884898 -  Homo sapiens

RGD ID: 28884898
RS ID: rs1662192950
ClinVar ID: CV864188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NLRP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 247,581,580
GRCh38 1 247,418,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_197t1:c.-517G>A
NM_004895.5:c.-517G>A
NM_001127461.3:c.-523G>A
NM_001127462.3:c.-523G>A
More... 		01/12/2018 5 prime utr variant uncertain significance 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:XM_047443571
Location:5UTRS;EXON

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

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

Gene Symbol:NLRP3
Accession:NM_001243133
Location:5UTRS;EXON

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

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

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

Gene Symbol:NLRP3
Accession:XM_017000182
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_001127461
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097956 CLINVAR
  RCV001097957 CLINVAR
  RCV001097958 CLINVAR
dbSNP (RS) rs1662192950 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