RGD:8692881 Rat Genome Database

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Variant: RGD:8692881 -  Homo sapiens

RGD ID: 8692881
RS ID: rs200517971
ClinVar ID: CV142847
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A22  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 792,229
GRCh38 11 792,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023407.1:g.11041C>T
NC_000011.10:g.792229G>A
NC_000011.9:g.792229G>A
NM_024698.6:c.743-12C>T
More... 		12/01/2021 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A22
Accession:XM_011520369
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_047427599
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_024448688
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_024448687
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_047427600
Location:INTRON

Gene Symbol:SLC25A22
Accession:NM_024698
Location:INTRON

Gene Symbol:SLC25A22
Accession:NM_001191061
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_011520370
Location:INTRON

Gene Symbol:SLC25A22
Accession:NM_001191060
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_047427601
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_011520371
Location:INTRON

Gene Symbol:SLC25A22
Accession:XM_024448689
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000128089 CLINVAR
  RCV001114123 CLINVAR
  RCV002055807 CLINVAR
dbSNP (RS) rs200517971 CLINVAR
MedGen C0270855 CLINVAR
  C0393706 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC25A22 CLINVAR
OMIM 609302 CLINVAR
SNOMED CT 230429005 CLINVAR
  44423001 CLINVAR