RGD:408386067 Rat Genome Database

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Variant: RGD:408386067 -  Homo sapiens

RGD ID: 408386067
ClinVar ID: CV3415537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC13A5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 6,609,960
GRCh38 17 6,706,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001284510.2:c.239+1G>A
NM_001143838.3:c.368+1G>A
NM_001284509.2:c.368+1G>A
NM_177550.5:c.368+1G>A
More... 		06/01/2022 splice donor variant likely pathogenic Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; Epileptic encephalopathy, early infantile, 25; Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3415537Humandevelopmental and epileptic encephalopathy 25  IAGP 8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 25ClinVarPMID:39825153
Gene Symbol:SLC13A5
Accession:NM_001284510
Location:INTRON

Gene Symbol:SLC13A5
Accession:NM_001143838
Location:INTRON

Gene Symbol:SLC13A5
Accession:NM_001284509
Location:INTRON

Gene Symbol:SLC13A5
Accession:XM_011523795
Location:INTRON

Gene Symbol:SLC13A5
Accession:NM_177550
Location:INTRON

.
PMID:39825153  



Database
Acc Id
Source(s)
ClinVar RCV004767638 CLINVAR
MedGen C4014621 CLINVAR
NCBI Gene SLC13A5 CLINVAR
OMIM 608305 CLINVAR
  615905 CLINVAR