Variant #0000003765 (NC_000001.10:g.20964567G>A, PINK1(NM_032409.2):c.620G>A)

Individual ID 00003765
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20964567G>A
Reference Scornaienchi V, Civitelli D, De Marco EV, Annesi G, Tarantino P, Rocca FE, Greco V, Provenzano G, Annesi F, Nicoletti G, Colica C, Uncini A, Salsone M, (2012)
DB-ID PINK1_000133
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PINK1 NM_032409.2 ./. 2 c.620G>A r.(?) p.(Arg207Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003765 ? ? PINK1 1 Y Yang