RGD:40903525 Rat Genome Database

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Variant: RGD:40903525 -  Homo sapiens

RGD ID: 40903525
RS ID: rs1291590169
ClinVar ID: CV977189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 27,459,616
GRCh38 2 27,236,748
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046394.1:g.24359G>A
NC_000002.12:g.27236748G>A
NM_004341.5:c.4315-1G>A
NM_004341.4:c.4315-1G>A
More... 		10/07/2022 splice acceptor variant likely pathogenic|uncertain significance Epileptic encephalopathy, early infantile, 50; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CAD
Accession:XM_006712101
Location:INTRON

Gene Symbol:CAD
Accession:NM_004341
Location:INTRON

Gene Symbol:CAD
Accession:NM_001306079
Location:INTRON

Gene Symbol:CAD
Accession:XM_047445803
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28007989   PMID:28492532   PMID:32117025   PMID:32461667   PMID:32820246   PMID:33497533  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001270833 CLINVAR
  RCV002541657 CLINVAR
dbSNP (RS) rs1291590169 CLINVAR
MedGen C3661900 CLINVAR
  C4225320 CLINVAR
NCBI Gene CAD CLINVAR
OMIM 114010 CLINVAR
  616457 CLINVAR