RGD:127321852 Rat Genome Database

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Variant: RGD:127321852 -  Homo sapiens

RGD ID: 127321852
RS ID: rs12287467
ClinVar ID: CV1156838
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE2A  PDE2A-AS2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 72,296,648
GRCh38 11 72,585,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243784.2:c.1120-11C>A
NM_001146209.3:c.1156-11C>A
NM_001143839.4:c.1162-11C>A
NM_002599.5:c.1183-11C>A
More... 		11/19/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PDE2A
Accession:NM_001143839
Location:INTRON

Gene Symbol:PDE2A
Accession:NM_002599
Location:INTRON

Gene Symbol:PDE2A
Accession:XM_005274040
Location:INTRON

Gene Symbol:PDE2A
Accession:NM_001146209
Location:INTRON

Gene Symbol:PDE2A
Accession:NM_001243784
Location:INTRON

Gene Symbol:PDE2A-AS2
Accession:XR_001748291
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001523253 CLINVAR
dbSNP (RS) rs12287467 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PDE2A CLINVAR
OMIM 602658 CLINVAR