RGD:10052995 Rat Genome Database

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Variant: RGD:10052995 -  Homo sapiens

RGD ID: 10052995
RS ID: rs111427762
ClinVar ID: CV195637
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DES  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 220,288,496
GRCh38 2 219,423,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_380t1:c.1245-3T>G
LRG_380:g.10398T>G
NG_008043.1:g.10398T>G
NC_000002.12:g.219423774T>G
More... 		12/31/2015 intron variant uncertain significance Desmin related myopathy (former name); Desmin storage myopathy (former name); DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; Desminopathy; Myofibrillar myopathy 1; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DES
Accession:NM_001382711
Location:INTRON

Gene Symbol:DES
Accession:NM_001927
Location:INTRON

Gene Symbol:DES
Accession:NM_001382710
Location:INTRON

Gene Symbol:DES
Accession:NM_001382713
Location:INTRON

Gene Symbol:DES
Accession:NM_001382708
Location:INTRON

Gene Symbol:DES
Accession:NM_001382712
Location:INTRON

Gene Symbol:DES
Accession:NM_001382709
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532   PMID:32528171  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000179841 CLINVAR
  RCV000246989 CLINVAR
  RCV002515283 CLINVAR
dbSNP (RS) rs111427762 CLINVAR
MedGen C1832370 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene DES CLINVAR
OMIM 125660 CLINVAR
  601419 CLINVAR
  615325 CLINVAR
SNOMED CT 770627003 CLINVAR