RGD:11664351 Rat Genome Database

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Variant: RGD:11664351 -  Homo sapiens

RGD ID: 11664351
RS ID: rs886058796
ClinVar ID: CV295965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE2  PRICKLE2-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 64,084,145
GRCh38 3 64,098,469
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.131987A>T
NC_000003.12:g.64098469T>A
NC_000003.11:g.64084145T>A
NR_045697.1:n.1843T>A
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 RCV000404748 CLINVAR
dbSNP (RS) rs886058796 CLINVAR
MedGen C0751778 CLINVAR
NCBI Gene PRICKLE2 CLINVAR
  PRICKLE2-AS1 CLINVAR
OMIM 608501 CLINVAR
SNOMED CT 267581004 CLINVAR