RGD:8596456 Rat Genome Database

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Variant: RGD:8596456 -  Homo sapiens

RGD ID: 8596456
RS ID: rs121908188
ClinVar ID: CV19535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 26,136,244
GRCh38 1 25,809,753
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.14578G>A
NC_000001.11:g.25809753G>A
NC_000001.10:g.26136244G>A
Q9NZV5:p.Gly315Ser
More... 		05/06/2019 missense|missense variant pathogenic|likely pathogenic neonatal/infancy Cap myopathy 1; Congenital Fiber-Type Disproportion; Congenital fiber-type disproportion myopathy; CONGENITAL MYOPATHY 3 WITH RIGID SPINE; Congenital myopathy 4A, autosomal dominant; Congenital myopathy with fiber type disproportion; MYOPATHY, SEPN1-RELATED; Nemaline myopathy 1; 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:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAA
ASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGA
VACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTSHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSN
MEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFT
EAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSHQKLAGL
HLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP*

Gene Symbol:SELENON
Accession:NM_020451
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLN*SSCLSLLRSTPAASCEEEELPPDPSEETLTIEA
RFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRF
YPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTSHIILS
KDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVF
EEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILT
LLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFS
FSSTFEDPSTATYMQFLKEGLRRGLPLLQP*
Variant Samples
Additional References at PubMed
PMID:12192640   PMID:15122708   PMID:15668457   PMID:16365872   PMID:17204937   PMID:17951086   PMID:19067361   PMID:20301436   PMID:23394784   PMID:24033266   PMID:25741868   PMID:26467025  
PMID:28492532   PMID:30932294   PMID:31127727   PMID:31321302   PMID:32796131  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004753 CLINVAR
  RCV000004754 CLINVAR
  RCV000082020 CLINVAR
  RCV000681664 CLINVAR
  RCV000778235 CLINVAR
  RCV003224794 CLINVAR
dbSNP (RS) rs121908188 CLINVAR
MedGen C0410180 CLINVAR
  C0546264 CLINVAR
  C3661900 CLINVAR
  CN239420 CLINVAR
NCBI Gene SEPN1 CLINVAR
OMIM 255310 CLINVAR
  602771 CLINVAR
  606210 CLINVAR
OMIM Allele 606210.0008 CLINVAR
SNOMED CT 240063002 CLINVAR
  240084007 CLINVAR