RGD:13835420 Rat Genome Database

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Variant: RGD:13835420 -  Homo sapiens

RGD ID: 13835420
RS ID: rs1563938239
ClinVar ID: CV586678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNE  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 36,233,909
GRCh38 9 36,233,912
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190388.2:c.805+8C>T
NM_001374797.1:c.829+8C>T
NM_005476.7:c.982+8C>T
NM_001374798.1:c.805+8C>T
More... 		01/04/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GNE
Accession:XM_017014167
Location:INTRON

Gene Symbol:GNE
Accession:NM_001128227
Location:INTRON

Gene Symbol:GNE
Accession:XM_005251334
Location:INTRON

Gene Symbol:GNE
Accession:NM_001190388
Location:INTRON

Gene Symbol:GNE
Accession:NM_001190384
Location:INTRON

Gene Symbol:GNE
Accession:NM_001190383
Location:INTRON

Gene Symbol:GNE
Accession:NM_005476
Location:INTRON

Gene Symbol:GNE
Accession:NM_001374798
Location:INTRON

Gene Symbol:GNE
Accession:NM_001374797
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000731218 CLINVAR
dbSNP (RS) rs1563938239 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GNE CLINVAR
OMIM 603824 CLINVAR