RGD:14718351 Rat Genome Database

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Variant: RGD:14718351 -  Homo sapiens

RGD ID: 14718351
RS ID: rs751318243
ClinVar ID: CV650663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 26,135,648
GRCh38 1 25,809,157
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206926.2:c.770+7G>A
NM_020451.3:c.872+7G>A
NG_009930.1:g.13982G>A
NC_000001.11:g.25809157G>A
More... 		10/17/2022 intron variant likely benign|uncertain significance 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_206926
Location:INTRON

Gene Symbol:SELENON
Accession:NM_020451
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000811323 CLINVAR
dbSNP (RS) rs751318243 CLINVAR
MedGen C0410180 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR