RGD:152175594 Rat Genome Database

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Variant: RGD:152175594 -  Homo sapiens

RGD ID: 152175594
RS ID: rs778172059
ClinVar ID: CV1526950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 56,385,397
GRCh38 16 56,351,485
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.825T>C
NG_042800.1:g.165147T>C
NC_000016.10:g.56351485T>C
NC_000016.9:g.56385397T>C
More... 		11/21/2020 synonymous variant likely benign Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNAO1
Accession:XM_011523003
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKLNPAGTTRRIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSA
ELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDV
GGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKS
PLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_020988
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIY
CHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163730 CLINVAR
dbSNP (RS) rs778172059 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
SNOMED CT 230429005 CLINVAR