RGD:11638945 Rat Genome Database

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Variant: RGD:11638945 -  Homo sapiens

RGD ID: 11638945
RS ID: rs149675783
ClinVar ID: CV273291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNE  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 36,229,011
GRCh38 9 36,229,014
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374797.1:c.917+7A>G
NM_001190388.2:c.893+7A>G
NM_001374798.1:c.893+7A>G
NM_001190383.3:c.1070+7A>G
More... 		01/24/2020 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 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; none provided; Sialic Acid Storage Disease; Sialuria; Sialuria, French type
Disease Annotations     Click to see Annotation Detail View
GNE myopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GNE
Accession:NM_001374797
Location:INTRON

Gene Symbol:GNE
Accession:NM_001190388
Location:INTRON

Gene Symbol:GNE
Accession:NM_001190384
Location:INTRON

Gene Symbol:GNE
Accession:XM_017014167
Location:INTRON

Gene Symbol:GNE
Accession:NM_005476
Location:INTRON

Gene Symbol:GNE
Accession:NM_001128227
Location:INTRON

Gene Symbol:GNE
Accession:NM_001374798
Location:INTRON

Gene Symbol:GNE
Accession:XM_005251334
Location:INTRON

Gene Symbol:GNE
Accession:NM_001190383
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000311555 CLINVAR
  RCV001089333 CLINVAR
  RCV001273956 CLINVAR
dbSNP (RS) rs149675783 CLINVAR
MedGen C1853926 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNE CLINVAR
OMIM 269921 CLINVAR
  600737 CLINVAR
  603824 CLINVAR
  605820 CLINVAR
SNOMED CT 238051008 CLINVAR