RGD:8606789 Rat Genome Database

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Variant: RGD:8606789 -  Homo sapiens

RGD ID: 8606789
RS ID: rs373230569
ClinVar ID: CV53136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RBM20  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 112,541,655
GRCh38 10 110,781,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_382t1:c.1275+13A>G
LRG_382:g.142501A>G
NG_021177.1:g.142501A>G
NC_000010.11:g.110781897A>G
More... 		12/18/2021 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RBM20
Accession:NM_001134363
Location:INTRON

Gene Symbol:RBM20
Accession:XM_017016104
Location:INTRON

Gene Symbol:RBM20
Accession:XM_047425116
Location:INTRON

Gene Symbol:RBM20
Accession:XM_017016103
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036940 CLINVAR
  RCV000603199 CLINVAR
dbSNP (RS) rs373230569 CLINVAR
MedGen C2750995 CLINVAR
  CN169374 CLINVAR
NCBI Gene RBM20 CLINVAR
OMIM 613171 CLINVAR
  613172 CLINVAR