RGD:11665589 Rat Genome Database

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Variant: RGD:11665589 -  Homo sapiens

RGD ID: 11665589
RS ID: rs2078073
ClinVar ID: CV279967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 20,977,856
GRCh38 1 20,651,363
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.*672T>C
NR_046507.1:n.831A>G
NM_032409.2:c.*672T>C
NG_032064.1:g.15182A>G
More... 		05/14/2021 3 prime utr variant benign|likely benign Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation; none provided; 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 RCV000280759 CLINVAR
  RCV000303492 CLINVAR
  RCV001102187 CLINVAR
  RCV001651340 CLINVAR
dbSNP (RS) rs2078073 CLINVAR
MedGen C0282577 CLINVAR
  C1853833 CLINVAR
  C3661900 CLINVAR
  CN239372 CLINVAR
NCBI Gene DDOST CLINVAR
  PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 602202 CLINVAR
  605909 CLINVAR
  608309 CLINVAR
SNOMED CT 238049009 CLINVAR