RGD:156248484 Rat Genome Database

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Variant: RGD:156248484 -  Homo sapiens

RGD ID: 156248484
ClinVar ID: CV1953668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLA2G4A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 186,823,539
GRCh38 1 186,854,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_596t1:c.33+20T>C
NM_001311193.2:c.33+20T>C
NM_024420.3:c.33+20T>C
LRG_596:g.30508T>C
More...
07/14/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLA2G4A
Accession:XM_005245267
Location:INTRON

Gene Symbol:PLA2G4A
Accession:XM_011509642
Location:INTRON

Gene Symbol:PLA2G4A
Accession:NM_024420
Location:INTRON

Gene Symbol:PLA2G4A
Accession:XM_047422599
Location:INTRON

Gene Symbol:PLA2G4A
Accession:NM_001311193
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002576462 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLA2G4A CLINVAR
OMIM 600522 CLINVAR