RGD:11651165 Rat Genome Database

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Variant: RGD:11651165 -  Homo sapiens

RGD ID: 11651165
RS ID: rs886058791
ClinVar ID: CV291410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE2  PRICKLE2-AS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 64,082,859
GRCh38 3 64,097,183
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_031930.1:g.133273G>C
NC_000003.12:g.64097183C>G
NC_000003.11:g.64082859C>G
NM_001370528.1:c.*1868G>C
More... 		06/14/2016 3 prime utr variant uncertain significance adolescent 1-9 / 1 000 000 Familial progressive myoclonic epilepsy; Myoclonic Epilepsies, Progressive; Myoclonus epilepsy; Progressive myoclonus epilepsy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PRICKLE2
Accession:NM_198859
Location:3UTRS;EXON

Gene Symbol:PRICKLE2
Accession:NM_001370528
Location:3UTRS;EXON

Gene Symbol:PRICKLE2-AS1
Accession:NR_045697
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297193 CLINVAR
dbSNP (RS) rs886058791 CLINVAR
MedGen C0751778 CLINVAR
NCBI Gene PRICKLE2 CLINVAR
  PRICKLE2-AS1 CLINVAR
OMIM 608501 CLINVAR
SNOMED CT 267581004 CLINVAR