Variant #0000003624 (NC_000001.10:g.20964381C>T, PINK1(NM_032409.2):c.434C>T)

Individual ID 00003624
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20964381C>T
Reference Marongiu R, 2008;Ishihara-Paul L, 2008
DB-ID PINK1_000017
Frequency -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




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.434C>T r.(?) p.(Thr145Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003624 ? ? PINK1 1 Y Yang