RGD:11633034 Rat Genome Database

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Variant: RGD:11633034 -  Homo sapiens

RGD ID: 11633034
RS ID: rs886041766
ClinVar ID: CV264812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  LOC127884044  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,226,486
GRCh38 16 56,192,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042800.1:g.6236G>A
NC_000016.10:g.56192574G>A
NC_000016.9:g.56226486G>A
NP_066268.1:p.Gly40Glu
More... 		06/04/2022 missense variant pathogenic|likely pathogenic Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; none provided; 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_020988
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLEAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_138736
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLEAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIY
THVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY*

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

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30682224  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000307507 CLINVAR
  RCV002519057 CLINVAR
dbSNP (RS) rs886041766 CLINVAR
MedGen C0393706 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
SNOMED CT 230429005 CLINVAR