RGD:11594480 Rat Genome Database

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Variant: RGD:11594480 -  Homo sapiens

RGD ID: 11594480
RS ID: rs139238137
ClinVar ID: CV295981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 64,210,915
GRCh38 3 64,225,239
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.5217G>A
NC_000003.12:g.64225239C>T
NC_000003.11:g.64210915C>T
NM_198859.4:c.-370G>A
More... 		11/01/2022 5 prime utr variant likely benign|uncertain significance adolescent 1-9 / 1 000 000 Familial progressive myoclonic epilepsy; Myoclonic Epilepsies, Progressive; Myoclonus epilepsy; none provided; 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:5UTRS;EXON

Gene Symbol:PRICKLE2
Accession:NM_001370528
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000359903 CLINVAR
  RCV003430886 CLINVAR
dbSNP (RS) rs139238137 CLINVAR
MedGen C0751778 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRICKLE2 CLINVAR
OMIM 608501 CLINVAR
SNOMED CT 267581004 CLINVAR