RGD:12833118 Rat Genome Database

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Variant: RGD:12833118 -  Homo sapiens

RGD ID: 12833118
RS ID: rs199937216
ClinVar ID: CV364983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 26,138,042
GRCh38 1 25,811,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009930.1:g.16376G>C
NC_000001.11:g.25811551G>C
NC_000001.10:g.26138042G>C
LRG_857t1:c.1092+16G>C
More... 		12/19/2021 intron variant benign|likely benign AllHighlyPenetrant; CONGENITAL MYOPATHY 3 WITH RIGID SPINE; MYOPATHY, SEPN1-RELATED; 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000417909 CLINVAR
  RCV002059877 CLINVAR
dbSNP (RS) rs199937216 CLINVAR
MedGen C0410180 CLINVAR
  CN169374 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR