RGD:11550010 Rat Genome Database

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Variant: RGD:11550010 -  Homo sapiens

RGD ID: 11550010
RS ID: rs760598
ClinVar ID: CV249869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 26,138,136
GRCh38 1 25,811,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020451.3:c.1093-46C>A
NM_206926.2:c.991-46C>A
NM_020451.2:c.1093-46C>A
NG_009930.1:g.16470C>A
More... 		06/14/2018 intron variant benign AllHighlyPenetrant; 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_020451
Location:INTRON

Gene Symbol:SELENON
Accession:NM_206926
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251176 CLINVAR
  RCV000828934 CLINVAR
  RCV001807191 CLINVAR
dbSNP (RS) rs760598 CLINVAR
MedGen C0410180 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR