RGD:11586646 Rat Genome Database

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Variant: RGD:11586646 -  Homo sapiens

RGD ID: 11586646
RS ID: rs2472188
ClinVar ID: CV283621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL36RN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 113,820,814
GRCh38 2 113,063,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_730t1:c.*560C>G
LRG_730t2:c.*560C>G
NM_173170.1:c.*560C>G
LRG_730:g.9600C>G
More... 		01/13/2018 3 prime utr variant benign|uncertain significance ACRODERMATITIS CONTINUA OF HALLOPEAU; INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; Psoriasis 14, pustular
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL36RN
Accession:XM_047443918
Location:3UTRS;EXON

Gene Symbol:IL36RN
Accession:NM_012275
Location:3UTRS;EXON

Gene Symbol:IL36RN
Accession:NM_173170
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:24656634   PMID:27220475   PMID:34903506  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000289570 CLINVAR
  RCV003326135 CLINVAR
dbSNP (RS) rs2472188 CLINVAR
MedGen C0343055 CLINVAR
  C0392439 CLINVAR
NCBI Gene IL36RN CLINVAR
OMIM 605507 CLINVAR
  614204 CLINVAR
SNOMED CT 238612002 CLINVAR
  83839005 CLINVAR