RGD:13621092 Rat Genome Database

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Variant: RGD:13621092 -  Homo sapiens

RGD ID: 13621092
RS ID: rs1035976243
ClinVar ID: CV515760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 26,127,531
GRCh38 1 25,801,040
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.5865C>T
NC_000001.11:g.25801040C>T
NC_000001.10:g.26127531C>T
NM_020451.3:c.184-3C>T
More... 		02/04/2022 intron variant 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:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000636852 CLINVAR
dbSNP (RS) rs1035976243 CLINVAR
MedGen C0410180 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR