RGD:13620621 Rat Genome Database

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Variant: RGD:13620621 -  Homo sapiens

RGD ID: 13620621
RS ID: rs775212759
ClinVar ID: CV530570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  LOC127884044  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 56,226,481
GRCh38 16 56,192,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020988.3:c.119-5A>G
NM_138736.3:c.119-5A>G
NM_020988.2:c.119-5A>G
NG_042800.1:g.6231A>G
More... 		10/04/2018 intron variant likely benign Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:XM_011523003
Location:5UTRS;EXON

Gene Symbol:GNAO1
Accession:NM_138736
Location:INTRON

Gene Symbol:GNAO1
Accession:NM_020988
Location:INTRON

Gene Symbol:GNAO1
Accession:XR_007064866
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001466154 CLINVAR
  RCV002334081 CLINVAR
dbSNP (RS) rs775212759 CLINVAR
MedGen C0393706 CLINVAR
  C0950123 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
SNOMED CT 230429005 CLINVAR