RGD:38596602 Rat Genome Database

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Variant: RGD:38596602 -  Homo sapiens

RGD ID: 38596602
RS ID: rs2037954227
ClinVar ID: CV963810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 56,388,873
GRCh38 16 56,354,961
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.973T>G
NG_042800.1:g.168623T>G
NC_000016.10:g.56354961T>G
NC_000016.9:g.56388873T>G
More... 		01/05/2024 missense variant likely pathogenic|uncertain significance Early infantile epileptic encephalopathy 17; Neurodevelopmental disorder with involuntary movements
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:NM_020988
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTGATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:XM_011523003
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKLNPAGTTRRIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSA
ELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDV
GGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKS
PLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTGATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_138736
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001252010 CLINVAR
  RCV003492236 CLINVAR
dbSNP (RS) rs2037954227 CLINVAR
MedGen C3809606 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
  615473 CLINVAR
  617493 CLINVAR