RGD:11548459 Rat Genome Database

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Variant: RGD:11548459 -  Homo sapiens

RGD ID: 11548459
RS ID: rs4709583
ClinVar ID: CV252218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126859871  PRKN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 162,622,304
GRCh38 6 162,201,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.162201272A>G
NC_000006.11:g.162622304A>G
NG_008289.2:g.531531T>C
NM_004562.2:c.413-20T>C
More... 		intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PRKN
Accession:NM_013988
Location:INTRON

Gene Symbol:PRKN
Accession:NM_013987
Location:INTRON

Gene Symbol:PRKN
Accession:NM_004562
Location:INTRON

Gene Symbol:PRKN
Accession:XM_011535863
Location:INTRON

Gene Symbol:PRKN
Accession:XM_017010908
Location:INTRON

Gene Symbol:PRKN
Accession:XM_024446449
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000249119 CLINVAR
  RCV001513674 CLINVAR
dbSNP (RS) rs4709583 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC126859871 CLINVAR
  PARK2 CLINVAR
OMIM 602544 CLINVAR