RGD:28874095 Rat Genome Database

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Variant: RGD:28874095 -  Homo sapiens

RGD ID: 28874095
RS ID: rs140420417
ClinVar ID: CV889578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE2  PRICKLE2-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 64,082,094
GRCh38 3 64,096,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031930.1:g.134038G>A
NM_001370528.1:c.*2633G>A
NM_198859.4:c.*2633G>A
NC_000003.12:g.64096418C>T
More... 		01/13/2018 3 prime utr variant likely benign 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_001370528
Location:3UTRS;EXON

Gene Symbol:PRICKLE2
Accession:NM_198859
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001147051 CLINVAR
dbSNP (RS) rs140420417 CLINVAR
MedGen C0751778 CLINVAR
NCBI Gene PRICKLE2 CLINVAR
  PRICKLE2-AS1 CLINVAR
OMIM 608501 CLINVAR
SNOMED CT 267581004 CLINVAR