RGD:12847836 Rat Genome Database

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Variant: RGD:12847836 -  Homo sapiens

RGD ID: 12847836
RS ID: rs1057521978
ClinVar ID: CV365173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 26,126,730
GRCh38 1 25,800,239
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.5064G>C
NC_000001.11:g.25800239G>C
NC_000001.10:g.26126730G>C
NP_065184.2:p.Arg3=
More... 		03/04/2016 synonymous variant 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_206926
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAA
ASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRFYPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGA
VACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSN
MEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFT
EAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILTLLNESFISTWSLVKELEELQNNQENSSHQKLAGL
HLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP*

Gene Symbol:SELENON
Accession:NM_020451
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAARQELALKTLGTDGLFLFSSLD
TDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQPQLPWLN*SSCLSLLRSTPAASCEEEELPPDPSEETLTIEA
RFQPLLPETMTKSKDGFLGVSRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRF
YPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSEPPDFPFWFSPAQFTGHIILS
KDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIGYIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVF
EEIKWQQELSWEEAARRLEVAMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSC*GSGRTLRETVLESSPILT
LLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINANYFLDITSVKPEEIESNLFS
FSSTFEDPSTATYMQFLKEGLRRGLPLLQP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000444196 CLINVAR
  RCV002065090 CLINVAR
dbSNP (RS) rs1057521978 CLINVAR
MedGen C0410180 CLINVAR
  CN169374 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR