RGD:11582301 Rat Genome Database

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Variant: RGD:11582301 -  Homo sapiens

RGD ID: 11582301
RS ID: rs779080942
ClinVar ID: CV280270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENON  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 26,138,199
GRCh38 1 25,811,708
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.16533G>A
NC_000001.11:g.25811708G>A
NC_000001.10:g.26138199G>A
NP_065184.2:p.Thr370=
More... 		05/02/2018 synonymous variant 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:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 336
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: T to T (synonymous)
Amino Acid Position: 370
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 RCV000406505 CLINVAR
  RCV000873164 CLINVAR
dbSNP (RS) rs779080942 CLINVAR
MedGen C0410180 CLINVAR
  CN239420 CLINVAR
NCBI Gene SELENON CLINVAR
OMIM 602771 CLINVAR
  606210 CLINVAR
SNOMED CT 240063002 CLINVAR