RGD:11584873 Rat Genome Database

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Variant: RGD:11584873 -  Homo sapiens

RGD ID: 11584873
RS ID: rs560055588
ClinVar ID: CV285481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DES  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 220,290,910
GRCh38 2 219,426,188
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_380t1:c.*198G>A
LRG_380:g.12812G>A
NG_008043.1:g.12812G>A
NC_000002.12:g.219426188G>A
More...
01/13/2018 3 prime utr variant benign|likely benign|uncertain significance Desmin related myopathy (former name); Desmin storage myopathy (former name); DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; Desminopathy; Kaeser syndrome; Myofibrillar myopathy 1; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; Scapuloperoneal syndrome, neurogenic type, of Kaeser; Stark-Kaeser syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DES
Accession:NM_001927
Location:3UTRS;EXON

Gene Symbol:DES
Accession:NM_001382711
Location:3UTRS;EXON

Gene Symbol:DES
Accession:NM_001382710
Location:3UTRS;EXON

Gene Symbol:DES
Accession:NM_001382709
Location:3UTRS;EXON

Gene Symbol:DES
Accession:NM_001382708
Location:3UTRS;EXON

Gene Symbol:DES
Accession:NM_001382713
Location:3UTRS;EXON

Gene Symbol:DES
Accession:NM_001382712
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276898 CLINVAR
  RCV000333057 CLINVAR
  RCV000369044 CLINVAR
  RCV002265738 CLINVAR
dbSNP (RS) rs560055588 CLINVAR
MedGen C1832370 CLINVAR
  C1858154 CLINVAR
  C1867005 CLINVAR
  CN239446 CLINVAR
NCBI Gene DES CLINVAR
OMIM 125660 CLINVAR
  181400 CLINVAR
  601419 CLINVAR
  604765 CLINVAR
  615325 CLINVAR
SNOMED CT 770627003 CLINVAR