RGD:12893928 Rat Genome Database

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Variant: RGD:12893928 -  Homo sapiens

RGD ID: 12893928
RS ID: rs1064795384
ClinVar ID: CV409654
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNAO1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 56,385,443
GRCh38 16 56,351,531
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.165193T>A
NC_000016.10:g.56351531T>A
NC_000016.9:g.56385443T>A
NP_066268.1:p.Tyr291Asn
More... 		08/05/2021 missense variant pathogenic|likely pathogenic Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; none provided; 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: Y to N (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKLNPAGTTRRIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSA
ELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDV
GGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKS
PLTICFPENTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY*

Gene Symbol:GNAO1
Accession:NM_020988
Location:EXON
Amino Acid Prediction: Y to N (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQS
LAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSL
DRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDET
TNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPENTGPNTYEDAAAYIQAQFESKNRSPNKEIY
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   PMID:30682224  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000480846 CLINVAR
  RCV001851218 CLINVAR
dbSNP (RS) rs1064795384 CLINVAR
MedGen C0393706 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNAO1 CLINVAR
OMIM 139311 CLINVAR
SNOMED CT 230429005 CLINVAR