RGD:8606798 Rat Genome Database

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Variant: RGD:8606798 -  Homo sapiens

RGD ID: 8606798
RS ID: rs12572941
ClinVar ID: CV53145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RBM20  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 112,570,130
GRCh38 10 110,810,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_382t1:c.1801-11G>C
LRG_382:g.170976G>C
NG_021177.1:g.170976G>C
NC_000010.11:g.110810372G>C
More... 		06/14/2016 intron|intron variant benign|likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RBM20
Accession:XM_047425116
Location:INTRON

Gene Symbol:RBM20
Accession:NM_001134363
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:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036949 CLINVAR
  RCV000615716 CLINVAR
dbSNP (RS) rs12572941 CLINVAR
MedGen C2750995 CLINVAR
  CN169374 CLINVAR
NCBI Gene RBM20 CLINVAR
OMIM 613171 CLINVAR
  613172 CLINVAR