RGD:15141009 Rat Genome Database

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Variant: RGD:15141009 -  Homo sapiens

RGD ID: 15141009
RS ID: rs1590694368
ClinVar ID: CV775603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RBM20  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 112,570,229
GRCh38 10 110,810,471
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001134363.3:c.1880+9C>T
NG_021177.1:g.171075C>T
NC_000010.11:g.110810471C>T
NC_000010.10:g.112570229C>T
More... 		08/10/2018 intron variant likely benign
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_047425116
Location:INTRON

Gene Symbol:RBM20
Accession:XM_017016104
Location:INTRON

Gene Symbol:RBM20
Accession:XM_017016103
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000943819 CLINVAR
dbSNP (RS) rs1590694368 CLINVAR
MedGen C2750995 CLINVAR
NCBI Gene RBM20 CLINVAR
OMIM 613171 CLINVAR
  613172 CLINVAR