RGD:12906209 Rat Genome Database

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Variant: RGD:12906209 -  Homo sapiens

RGD ID: 12906209
RS ID: rs1085307894
ClinVar ID: CV415502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 56,385,297
GRCh38 16 56,351,385
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.165047A>C
NC_000016.10:g.56351385A>C
NC_000016.9:g.56385297A>C
NP_066268.1:p.Asn242Thr
More... 		12/05/2017 missense variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:NM_020988
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TTRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:XM_011523003
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKLNPAGTTRRIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSA
ELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDV
GGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTTRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKS
PLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_138736
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000488949 CLINVAR
dbSNP (RS) rs1085307894 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR