RGD:156041955 Rat Genome Database

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Variant: RGD:156041955 -  Homo sapiens

RGD ID: 156041955
ClinVar ID: CV2143500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL10RA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 117,859,216
GRCh38 11 117,988,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_151t1:c.187A>G
NM_001558.3:c.187A>G
NM_001558.4:c.187A>G
LRG_151:g.7111A>G
More... 		07/03/2023 missense variant uncertain significance Inflammatory bowel disease 28, autosomal recessive; Inflammatory bowel disease 28, early onset, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL10RA
Accession:XM_047426884
Location:5UTRS;EXON

Gene Symbol:IL10RA
Accession:NM_001558
Location:EXON

Gene Symbol:IL10RA
Accession:XM_047426882
Location:EXON

Gene Symbol:IL10RA
Accession:NR_026691
Location:EXON;NON-CODING

Gene Symbol:IL10RA
Accession:XM_047426883
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002999558 CLINVAR
  RCV003009002 CLINVAR
MedGen C0950123 CLINVAR
  C2751053 CLINVAR
NCBI Gene IL10RA CLINVAR
OMIM 146933 CLINVAR
  613148 CLINVAR