RGD:156327468 Rat Genome Database

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Variant: RGD:156327468 -  Homo sapiens

RGD ID: 156327468
ClinVar ID: CV1887385
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 20,964,332
GRCh38 1 20,637,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032409.3:c.388-3C>A
NG_008164.1:g.9385C>A
NC_000001.11:g.20637839C>A
NC_000001.10:g.20964332C>A
 07/16/2022 intron 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:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003089580 CLINVAR
MedGen C1853833 CLINVAR
NCBI Gene PINK1 CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR