RGD:11589059 Rat Genome Database

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Variant: RGD:11589059 -  Homo sapiens

RGD ID: 11589059
RS ID: rs369117599
ClinVar ID: CV278542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 20,977,202
GRCh38 1 20,650,709
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008164.1:g.22255G>A
NC_000001.11:g.20650709G>A
NC_000001.10:g.20977202G>A
NM_032409.2:c.*18G>A
More... 		06/14/2016 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 RCV000308009 CLINVAR
dbSNP (RS) rs369117599 CLINVAR
MedGen C1853833 CLINVAR
NCBI Gene PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR