RGD:40886889 Rat Genome Database

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Variant: RGD:40886889 -  Homo sapiens

RGD ID: 40886889
RS ID: rs750939090
ClinVar ID: CV974236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLA2G6  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 38,522,377
GRCh38 22 38,126,370
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001004426.3:c.1265+1G>C
NM_001199562.3:c.1265+1G>C
NM_003560.4:c.1427+1G>C
NM_001349869.2:c.731+1G>C
More...
01/08/2018 splice donor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLA2G6
Accession:NM_001199562
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001004426
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_003560
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349868
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349866
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349869
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349867
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349865
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349864
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19138334  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001266198 CLINVAR
  RCV002469366 CLINVAR
dbSNP (RS) rs750939090 CLINVAR
MedGen C0950123 CLINVAR
  C2931845 CLINVAR
NCBI Gene PLA2G6 CLINVAR
OMIM 603604 CLINVAR