RGD:28880916 Rat Genome Database

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Variant: RGD:28880916 -  Homo sapiens

RGD ID: 28880916
RS ID: rs1171595625
ClinVar ID: CV863355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 20,977,248
GRCh38 1 20,650,755
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_046507.1:n.1439C>T
NM_032409.2:c.*64G>A
NM_032409.3:c.*64G>A
NG_032064.1:g.15790C>T
More... 		01/12/2018 3 prime utr variant uncertain significance PARKINSON DISEASE 6, EARLY-ONSET; PARKINSON DISEASE 6, MODIFIER OF; PINK1-Related Parkinson Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PINK1
Accession:NM_032409
Location:3UTRS;EXON

Gene Symbol:PINK1-AS
Accession:NR_046507
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001096694 CLINVAR
dbSNP (RS) rs1171595625 CLINVAR
MedGen C1853833 CLINVAR
NCBI Gene PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR