RGD:401860229 Rat Genome Database

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Variant: RGD:401860229 -  Homo sapiens

RGD ID: 401860229
ClinVar ID: CV2751946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  LOC127884044  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 56,226,151
GRCh38 16 56,192,239
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_139579.1:g.218G>C
NG_042800.1:g.5901G>C
NC_000016.10:g.56192239G>C
NC_000016.9:g.56226151G>C
More... 		08/17/2023 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:NM_020988
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_138736
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIY
THVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY*

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

Gene Symbol:GNAO1
Accession:XM_011523003
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003335829 CLINVAR
MedGen C4479569 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
  617493 CLINVAR