RGD:126745263 Rat Genome Database

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Variant: RGD:126745263 -  Homo sapiens

RGD ID: 126745263
RS ID: rs1685595982
ClinVar ID: CV1003173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL36RN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 113,817,050
GRCh38 2 113,059,473
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_730t1:c.29+6T>C
NM_012275.3:c.29+6T>C
NM_173170.1:c.29+6T>C
LRG_730:g.5836T>C
More... 		07/20/2020 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL36RN
Accession:NM_173170
Location:INTRON

Gene Symbol:IL36RN
Accession:NM_012275
Location:INTRON

Gene Symbol:IL36RN
Accession:XM_047443918
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001325154 CLINVAR
dbSNP (RS) rs1685595982 CLINVAR
MedGen C0343055 CLINVAR
NCBI Gene IL36RN CLINVAR
OMIM 605507 CLINVAR
  614204 CLINVAR
SNOMED CT 238612002 CLINVAR