RGD:156221195 Rat Genome Database

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Variant: RGD:156221195 -  Homo sapiens

RGD ID: 156221195
ClinVar ID: CV2345123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 56,374,870
GRCh38 16 56,340,958
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.723+4098C>T
NM_138736.3:c.848C>T
NG_042800.1:g.154620C>T
NC_000016.10:g.56340958C>T
More... 		06/18/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:NM_138736
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSLLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIY
THVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY*

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

Gene Symbol:GNAO1
Accession:XM_011523003
Location:INTRON

Gene Symbol:GNAO1
Accession:NM_020988
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002986148 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR