RGD:405180321 Rat Genome Database

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Variant: RGD:405180321 -  Homo sapiens

RGD ID: 405180321
ClinVar ID: CV2957356
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL10RA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 117,866,296
GRCh38 11 117,995,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001558.4:c.689-8G>A
LRG_151:g.14191G>A
NG_016275.1:g.14191G>A
NC_000011.10:g.117995581G>A
More... 		08/23/2023 intron variant likely benign 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_047426883
Location:INTRON

Gene Symbol:IL10RA
Accession:XM_047426882
Location:INTRON

Gene Symbol:IL10RA
Accession:XM_047426884
Location:INTRON

Gene Symbol:IL10RA
Accession:NM_001558
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003639477 CLINVAR
MedGen C2751053 CLINVAR
NCBI Gene IL10RA CLINVAR
OMIM 146933 CLINVAR
  613148 CLINVAR