RGD:401918895 Rat Genome Database

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Variant: RGD:401918895 -  Homo sapiens

RGD ID: 401918895
ClinVar ID: CV2831284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 20,971,149
GRCh38 1 20,644,656
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.943T>C
NG_008164.1:g.16202T>C
NC_000001.11:g.20644656T>C
NC_000001.10:g.20971149T>C
More... 		missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
neuroblastoma  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Neuroblastoma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PINK1
Accession:NM_032409
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVGLGLPNRLRFFRQSVAGLAAR
LQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQ
SIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLPSRLHPEGLGHGRTLLLVMKN
YPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPF
SSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLA
NLECETLCQAALLLCSWRAAL*

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003444049 CLINVAR
MedGen C0027819 CLINVAR
NCBI Gene PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 608309 CLINVAR