RGD:11592558 Rat Genome Database

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Variant: RGD:11592558 -  Homo sapiens

RGD ID: 11592558
RS ID: rs4252027
ClinVar ID: CV283906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 113,890,758
GRCh38 2 113,133,181
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_188t1:c.*310T>C
LRG_188:g.20289T>C
NG_021240.1:g.20289T>C
NC_000002.12:g.113133181T>C
More... 		04/27/2017 3 prime utr variant likely benign infancy <1 / 1 000 000 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL1RN
Accession:NM_001379360
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_047444186
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:NM_173842
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_047444184
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:NM_173841
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:NM_173843
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_011511121
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:XM_047444185
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:NM_001318914
Location:3UTRS;EXON

Gene Symbol:IL1RN
Accession:NM_000577
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000340072 CLINVAR
dbSNP (RS) rs4252027 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR