RGD:11603186 Rat Genome Database

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Variant: RGD:11603186 -  Homo sapiens

RGD ID: 11603186
RS ID: rs566044462
ClinVar ID: CV308319
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 36,214,683
GRCh38 9 36,214,686
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001190388.2:c.*2679G>A
NM_001374797.1:c.*2679G>A
NM_001374798.1:c.*2679G>A
NG_008246.1:g.67359G>A
More... 		06/14/2016 3 prime utr variant uncertain significance adolescent|infancy 1-9 / 1 000 000|<1 / 1 000 000 IBM 2; Inclusion body myopathy 2; INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; Inclusion body myopathy autosomal recessive; Inclusion body myopathy quadriceps sparing; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES; Nonaka distal myopathy; Nonaka myopathy; Sialic Acid Storage Disease; Sialuria, French type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNE
Accession:NM_001190388
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:XM_017014167
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:NM_001190383
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:NM_001374797
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:NM_005476
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:NM_001128227
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:XM_005251334
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:NM_001190384
Location:3UTRS;EXON

Gene Symbol:GNE
Accession:NM_001374798
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297341 CLINVAR
  RCV000338295 CLINVAR
  RCV000396163 CLINVAR
dbSNP (RS) rs566044462 CLINVAR
MedGen C0342853 CLINVAR
  C1853926 CLINVAR
  CN239230 CLINVAR
NCBI Gene GNE CLINVAR
OMIM 269921 CLINVAR
  600737 CLINVAR
  603824 CLINVAR
  605820 CLINVAR
SNOMED CT 238051008 CLINVAR