RGD:13211662 Rat Genome Database

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Variant: RGD:13211662 -  Homo sapiens

RGD ID: 13211662
RS ID: rs34208370
ClinVar ID: CV425331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 20,975,710
GRCh38 1 20,649,217
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.20763C>T
NC_000001.11:g.20649217C>T
NC_000001.10:g.20975710C>T
NP_115785.1:p.Arg492Ter
More... 		11/04/2019 non-coding transcript variant|nonsense pathogenic 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:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 492
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVGLGLPNRLRFFRQSVAGLAAR
LQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQ
SIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLPSRLHPEGLGHGRTLFLVMKN
YPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPF
SSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQ*EASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLA
NLECETLCQAALLLCSWRAAL*

Gene Symbol:PINK1-AS
Accession:NR_046507
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:15349870   PMID:17960343   PMID:18785233   PMID:20547144   PMID:25741868   PMID:28492532   PMID:29255601  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000497743 CLINVAR
  RCV000814157 CLINVAR
dbSNP (RS) rs34208370 CLINVAR
MedGen C1853833 CLINVAR
  C3661900 CLINVAR
NCBI Gene PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR