RGD:156296064 Rat Genome Database

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Variant: RGD:156296064 -  Homo sapiens

RGD ID: 156296064
ClinVar ID: CV2017061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL10  IL19  LOC128462409  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 206,945,669
GRCh38 1 206,772,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1230t1:c.112C>G
NM_153758.5:c.-149+1246G>C
NM_001393490.1:c.-149+1494G>C
NM_000572.3:c.112C>G
More... 		05/28/2022 intron 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:IL19
Accession:NM_153758
Location:5UTRS;INTRON

Gene Symbol:IL19
Accession:NM_001393490
Location:5UTRS;INTRON

Gene Symbol:IL10
Accession:NM_000572
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSSALLCCLVLLTGVRASPGQGTQSENSCTHFPGNLPNMLRDLRDAFSRVKTFFQMKDQLDNLLLKESLLEDFKGYLGC
QALSEMIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLRRCHRFLPCENKSKAVEQVKNAFNKLQEKGIYKAMSE
FDIFINYIEAYMTMKIRN*

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

Gene Symbol:IL10
Accession:NM_001382624
Location:INTRON

Gene Symbol:IL19
Accession:NM_001393491
Location:INTRON

Gene Symbol:IL19
Accession:NM_013371
Location:INTRON

Gene Symbol:IL19
Accession:NM_001369605
Location:INTRON

Gene Symbol:IL19
Accession:XM_011509450
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002715848 CLINVAR
MedGen C0021390 CLINVAR
NCBI Gene IL10 CLINVAR
  IL19 CLINVAR
  LOC128462409 CLINVAR
OMIM 124092 CLINVAR
  605687 CLINVAR
SNOMED CT 24526004 CLINVAR