RGD:10049007 Rat Genome Database

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Variant: RGD:10049007 -  Homo sapiens

RGD ID: 10049007
RS ID: rs794727808
ClinVar ID: CV195399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 26,135,643
GRCh38 1 25,809,152
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_009930.1:g.13977T>C
NC_000001.11:g.25809152T>C
NC_000001.10:g.26135643T>C
NM_206926.2:c.770+2T>C
More... 		01/24/2023 splice donor variant pathogenic|uncertain significance neonatal/infancy CONGENITAL MYOPATHY 3 WITH RIGID SPINE; MYOPATHY, SEPN1-RELATED; none provided; Rigid spine muscular dystrophy 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SELENON
Accession:NM_206926
Location:INTRON

Gene Symbol:SELENON
Accession:NM_020451
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000179510 CLINVAR
  RCV002516794 CLINVAR
dbSNP (RS) rs794727808 CLINVAR
MedGen C0410180 CLINVAR
  C3661900 CLINVAR
NCBI Gene SEPN1 CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR