RGD:11666112 Rat Genome Database

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Variant: RGD:11666112 -  Homo sapiens

RGD ID: 11666112
RS ID: rs16824318
ClinVar ID: CV278672
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 20,977,674
GRCh38 1 20,651,181
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032064.1:g.15364T>G
NG_008164.1:g.22727A>C
NC_000001.11:g.20651181A>C
NC_000001.10:g.20977674A>C
More... 		05/25/2021 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 RCV000316648 CLINVAR
  RCV000388055 CLINVAR
  RCV001100196 CLINVAR
  RCV001683179 CLINVAR
dbSNP (RS) rs16824318 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