Variant #0000003660 (NC_000001.10:g.20972111G>A, PINK1(NM_032409.2):c.1018G>A)

Individual ID 00003660
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20972111G>A
Reference Vente EM, 2004;Groen JL, 2004;Clarimón J, 2006;Tan EK, 2006;Wang F, 2006
DB-ID PINK1_000053
Frequency -
Average frequency (gnomAD v.2.1.1) 0.09229 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 ./. 5 c.1018G>A r.(?) p.(Ala340Thr) 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     
0000003660 ? ? PINK1 1 Y Yang