RGD:11060066 Rat Genome Database

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Variant: RGD:11060066 -  Homo sapiens

RGD ID: 11060066
RS ID: rs869312939
ClinVar ID: CV226954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  LOC127884044  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 56,226,500
GRCh38 16 56,192,588
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.6250G>C
NC_000016.10:g.56192588G>C
NC_000016.9:g.56226500G>C
NP_066268.1:p.Gly45Arg
More... 		05/13/2020 missense variant pathogenic|likely pathogenic 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_020988
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESRKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_138736
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESRKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIY
THVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY*

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

Variant Samples
Additional References at PubMed
PMID:25356970   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210693 CLINVAR
  RCV001378535 CLINVAR
dbSNP (RS) rs869312939 CLINVAR
MedGen C0393706 CLINVAR
  C0950123 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
SNOMED CT 230429005 CLINVAR