RGD:151892492 Rat Genome Database

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Variant: RGD:151892492 -  Homo sapiens

RGD ID: 151892492
RS ID: rs201365412
ClinVar ID: CV1493519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL10  IL19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 206,944,259
GRCh38 1 206,770,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1230t1:c.371G>A
NM_001393490.1:c.-149+84C>T
NM_153758.5:c.-313C>T
NM_001382624.1:c.116G>A
More... 		10/07/2021 5 prime utr 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;EXON

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

Gene Symbol:IL10
Accession:NM_000572
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSSALLCCLVLLTGVRASPGQGTQSENSCTHFPGNLPNMLRDLRDAFSRVKTFFQMKDQLDNLLLKESLLEDFKGYLGC
QALSEMIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLLRCHRFLPCENKSKAVEQVKNAFNKLQEKGIYKAMSE
FDIFINYIEAYMTMKIRN*

Gene Symbol:IL10
Accession:NM_001382624
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLLRCHRFLPCENKSKAVEQVKNAFNKLQEKGIYKAMSEFDIFI
NYIEAYMTMKIRN*

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

Gene Symbol:IL19
Accession:NM_013371
Location:INTRON

Gene Symbol:IL19
Accession:XM_011509450
Location:INTRON

Gene Symbol:IL19
Accession:NM_001369605
Location:INTRON

Gene Symbol:IL19
Accession:NM_001393491
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 RCV001944169 CLINVAR
dbSNP (RS) rs201365412 CLINVAR
MedGen C0021390 CLINVAR
NCBI Gene IL10 CLINVAR
  IL19 CLINVAR
OMIM 124092 CLINVAR
  605687 CLINVAR
SNOMED CT 24526004 CLINVAR