RGD:13809722 Rat Genome Database

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Variant: RGD:13809722 -  Homo sapiens

RGD ID: 13809722
RS ID: rs1799917
ClinVar ID: CV577551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 56,377,748
GRCh38 16 56,343,836
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.157498A>G
NC_000016.10:g.56343836A>G
NC_000016.9:g.56377748A>G
NP_620073.2:p.Lys317=
More... 		07/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:NM_138736
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIY
THVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY*

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

Gene Symbol:GNAO1
Accession:NM_020988
Location:INTRON

Gene Symbol:GNAO1
Accession:XM_011523003
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711829 CLINVAR
dbSNP (RS) rs1799917 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR