RGD:28875872 Rat Genome Database

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Variant: RGD:28875872 -  Homo sapiens

RGD ID: 28875872
RS ID: rs756531877
ClinVar ID: CV889564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE2  PRICKLE2-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 64,080,972
GRCh38 3 64,095,296
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001370528.1:c.*3755A>T
NM_198859.4:c.*3755A>T
NG_031930.1:g.135160A>T
NC_000003.12:g.64095296T>A
More... 		03/23/2018 3 prime utr variant uncertain significance 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:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001147848 CLINVAR
dbSNP (RS) rs756531877 CLINVAR
MedGen C0751778 CLINVAR
NCBI Gene PRICKLE2 CLINVAR
  PRICKLE2-AS1 CLINVAR
OMIM 608501 CLINVAR
SNOMED CT 267581004 CLINVAR