RGD:28880186 Rat Genome Database

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Variant: RGD:28880186 -  Homo sapiens

RGD ID: 28880186
RS ID: rs532364258
ClinVar ID: CV891299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLA2G6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 38,508,133
GRCh38 22 38,112,126
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001349867.2:c.*35C>T
NM_001349868.2:c.*35C>T
NM_001349869.2:c.*35C>T
NM_003560.4:c.*35C>T
More... 		01/13/2018 3 prime utr variant uncertain significance phospholipase A2-associated neurodegeneration
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLA2G6
Accession:NM_001349865
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001004426
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001349868
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001349869
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001349866
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_003560
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001349864
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001349867
Location:3UTRS;EXON

Gene Symbol:PLA2G6
Accession:NM_001199562
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001149227 CLINVAR
dbSNP (RS) rs532364258 CLINVAR
MedGen CN204472 CLINVAR
NCBI Gene PLA2G6 CLINVAR
OMIM 256600 CLINVAR
  603604 CLINVAR