RGD:126765205 Rat Genome Database

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Variant: RGD:126765205 -  Homo sapiens

RGD ID: 126765205
RS ID: rs201701192
ClinVar ID: CV987917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL1RN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 113,888,737
GRCh38 2 113,131,160
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318914.2:c.216+3A>G
NM_001379360.1:c.216+3A>G
NM_173843.3:c.216+3A>G
NM_000577.5:c.264+3A>G
More... 		02/27/2020 intron variant uncertain significance 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_173842
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_173841
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_047444185
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_000577
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_047444184
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_173843
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_011511121
Location:INTRON

Gene Symbol:IL1RN
Accession:XM_047444186
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_001318914
Location:INTRON

Gene Symbol:IL1RN
Accession:NM_001379360
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001301399 CLINVAR
dbSNP (RS) rs201701192 CLINVAR
MedGen C2748507 CLINVAR
NCBI Gene IL1RN CLINVAR
OMIM 147679 CLINVAR
  612852 CLINVAR