RGD:152030382 Rat Genome Database

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Variant: RGD:152030382 -  Homo sapiens

RGD ID: 152030382
RS ID: rs373621697
ClinVar ID: CV1571006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 113,888,751
GRCh38 2 113,131,174
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173841.3:c.327+17G>A
LRG_188:g.18282G>A
NG_021240.1:g.18282G>A
NC_000002.12:g.113131174G>A
More... 		04/10/2021 intron variant likely benign 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:XM_011511121
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_047444186
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_173841
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_001318914
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_047444185
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_047444184
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_173843
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_001379360
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_000577
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_173842
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002105903 CLINVAR
dbSNP (RS) rs373621697 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR