RGD:11637603 Rat Genome Database

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Variant: RGD:11637603 -  Homo sapiens

RGD ID: 11637603
RS ID: rs45604240
ClinVar ID: CV271018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 20,964,381
GRCh38 1 20,637,888
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.9434C>T
NC_000001.11:g.20637888C>T
NC_000001.10:g.20964381C>T
NP_115785.1:p.Thr145Met
More... 		12/04/2019 missense variant conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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: T to M (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVGLGLPNRLRFFRQSVAGLAAR
LQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDMRRLQGFRLEEYLIGQ
SIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLPSRLHPEGLGHGRTLFLVMKN
YPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPF
SSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLA
NLECETLCQAALLLCSWRAAL*
Variant Samples
Additional References at PubMed
PMID:18330912   PMID:18685134   PMID:23459931   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000287239 CLINVAR
  RCV000725899 CLINVAR
  RCV001037688 CLINVAR
dbSNP (RS) rs45604240 CLINVAR
MedGen C1853833 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PINK1 CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR