RGD:127299577 Rat Genome Database

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Variant: RGD:127299577 -  Homo sapiens

RGD ID: 127299577
RS ID: rs760242157
ClinVar ID: CV1109924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL10  IL19  LOC128462409  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 206,945,763
GRCh38 1 206,772,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153758.5:c.-149+1340C>T
NM_001393490.1:c.-149+1588C>T
LRG_1230t1:c.18G>A
NM_000572.3:c.18G>A
More... 		11/16/2020 intron variant|non-coding transcript variant likely benign
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_001393490
Location:5UTRS;INTRON

Gene Symbol:IL19
Accession:NM_153758
Location:5UTRS;INTRON

Gene Symbol:IL10
Accession:NM_000572
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSSALLCCLVLLTGVRASPGQGTQSENSCTHFPGNLPNMLRDLRDAFSRVKTFFQMKDQLDNLLLKESLLEDFKGYLGC
QALSEMIQFYLEEVMPQAENQDPDIKAHVNSLGENLKTLRLRLRRCHRFLPCENKSKAVEQVKNAFNKLQEKGIYKAMSE
FDIFINYIEAYMTMKIRN*

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

Gene Symbol:IL19
Accession:NM_001369605
Location:INTRON

Gene Symbol:IL10
Accession:NM_001382624
Location:INTRON

Gene Symbol:IL19
Accession:NM_013371
Location:INTRON

Gene Symbol:IL19
Accession:XM_011509450
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 RCV001478231 CLINVAR
dbSNP (RS) rs760242157 CLINVAR
MedGen C0021390 CLINVAR
NCBI Gene IL10 CLINVAR
  IL19 CLINVAR
  LOC128462409 CLINVAR
OMIM 124092 CLINVAR
  605687 CLINVAR
SNOMED CT 24526004 CLINVAR