Variant #0000003708 (NC_000001.10:g.20960230C>T, PINK1(NM_032409.2):c.189C>T)

Individual ID 00003708
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20960230C>T
Reference Vente EM, 2004;Groen JL, 2004;Schlitter AM, 2005
DB-ID PINK1_000101
Frequency -
Average frequency (gnomAD v.2.1.1) 0.17527 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 ./. 1 c.189C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003708 ? ? PINK1 1 Y Yang