RGD:13523216 Rat Genome Database

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Variant: RGD:13523216 -  Homo sapiens

RGD ID: 13523216
RS ID: rs978886878
ClinVar ID: CV492921
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 26,136,184
GRCh38 1 25,809,693
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.14518G>A
NC_000001.11:g.25809693G>A
NC_000001.10:g.26136184G>A
NP_065184.2:p.Glu295Lys
More... 		05/05/2021 missense variant conflicting interpretations of pathogenicity|uncertain significance 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_206926
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAA
ASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGA
VACLTAISDFYYTVMFRIHAKFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSN
MEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFT
EAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSHQKLAGL
HLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP*

Gene Symbol:SELENON
Accession:NM_020451
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLN*SSCLSLLRSTPAASCEEEELPPDPSEETLTIEA
RFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRF
YPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAKFQLSEPPDFPFWFSPAQFTGHIILS
KDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVF
EEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILT
LLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFS
FSSTFEDPSTATYMQFLKEGLRRGLPLLQP*
Variant Samples
Additional References at PubMed
PMID:21670436   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000592718 CLINVAR
  RCV001867977 CLINVAR
dbSNP (RS) rs978886878 CLINVAR
MedGen C0410180 CLINVAR
  C3661900 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR