RGD:12742833 Rat Genome Database

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Variant: RGD:12742833 -  Homo sapiens

RGD ID: 12742833
RS ID: rs1057518440
ClinVar ID: CV360290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,370,669
GRCh38 16 56,336,757
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.150419C>A
NC_000016.10:g.56336757C>A
NC_000016.9:g.56370669C>A
NP_066268.1:p.Ser207Tyr
More... 		12/12/2016 missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:NM_020988
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRYERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_138736
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRYERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIY
THVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY*

Gene Symbol:GNAO1
Accession:XM_011523003
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKLNPAGTTRRIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSA
ELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDV
GGQRYERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKS
PLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000414640 CLINVAR
dbSNP (RS) rs1057518440 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR