RGD:156381812 Rat Genome Database

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Variant: RGD:156381812 -  Homo sapiens

RGD ID: 156381812
ClinVar ID: CV1925153
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL10  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 206,943,232
GRCh38 1 206,769,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1230t1:c.386T>A
NM_001382624.1:c.131T>A
NM_000572.3:c.386T>A
LRG_1230:g.7608T>A
More... 		02/14/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:IL10
Accession:NM_000572
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSSALLCCLVLLTGVRASPGQGTQSENSCTHFPGNLPNMLRDLRDAFSRVKTFFQMKDQLDNLLLKESLLEDFKGYLGC
QALSEMIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLRRCHRYLPCENKSKAVEQVKNAFNKLQEKGIYKAMSE
FDIFINYIEAYMTMKIRN*

Gene Symbol:IL10
Accession:NM_001382624
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLRRCHRYLPCENKSKAVEQVKNAFNKLQEKGIYKAMSEFDIFI
NYIEAYMTMKIRN*

Gene Symbol:IL10
Accession:NR_168466
Location:EXON;NON-CODING

Gene Symbol:IL10
Accession:NR_168467
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002634330 CLINVAR
MedGen C0021390 CLINVAR
NCBI Gene IL10 CLINVAR
OMIM 124092 CLINVAR
SNOMED CT 24526004 CLINVAR