RGD:28895885 Rat Genome Database

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Variant: RGD:28895885 -  Homo sapiens

RGD ID: 28895885
RS ID: rs28940284
ClinVar ID: CV863345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 20,971,019
GRCh38 1 20,644,526
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.813C>T
NC_000001.11:g.20644526C>T
NP_115785.1:p.His271=
NC_000001.10:g.20971019C>T
More... 		04/27/2017 synonymous variant uncertain significance 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: H to H (synonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVGLGLPNRLRFFRQSVAGLAAR
LQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQ
SIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLPSRLHPEGLGHGRTLFLVMKN
YPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPF
SSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLA
NLECETLCQAALLLCSWRAAL*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001101994 CLINVAR
dbSNP (RS) rs28940284 CLINVAR
MedGen C1853833 CLINVAR
NCBI Gene PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR