Variant #0000003664 (NC_000001.10:g.20972133T>C, PINK1(NM_032409.2):c.1040T>C)

Individual ID 00003664
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20972133T>C
Reference Hatano Y, 2004;Rogaeva E, 2004;Doostzadeh J, 2007
DB-ID PINK1_000057
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-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 ./. 5 c.1040T>C r.(?) p.(Leu347Pro) 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     
0000003664 ? ? PINK1 1 Y Yang