RGD:21071298 Rat Genome Database

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Variant: RGD:21071298 -  Homo sapiens

RGD ID: 21071298
RS ID: rs145650643
ClinVar ID: CV794551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 20,966,454
GRCh38 1 20,639,961
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.745T>G
NG_008164.1:g.11507T>G
NC_000001.11:g.20639961T>G
NC_000001.10:g.20966454T>G
More... 		03/14/2022 missense variant uncertain significance 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: L to V (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVGLGLPNRLRFFRQSVAGLAAR
LQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQ
SIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVAVAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLPSRLHPEGLGHGRTLFLVMKN
YPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPF
SSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLA
NLECETLCQAALLLCSWRAAL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:28849312  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000993933 CLINVAR
  RCV001057867 CLINVAR
dbSNP (RS) rs145650643 CLINVAR
MedGen C1853833 CLINVAR
  C3661900 CLINVAR
NCBI Gene PINK1 CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR