Variant #0000003698 (NC_000001.10:g.20975021G>A, PINK1(NM_032409.2):c.1147G>A)

Individual ID 00003698
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20975021G>A
Reference Ibá?ez P, 2006;Abou-Sleiman PM, 2006;Marongiu R, 2008
DB-ID PINK1_000091
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00028 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 ./. 6 c.1147G>A r.(?) p.(Ala383Thr) 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     
0000003698 ? ? PINK1 1 Y Yang