Variant #0000003623 (NC_000001.10:g.20960418A>C, PINK1(NM_032409.2):c.377A>C)

Individual ID 00003623
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.20960418A>C
Reference Prestel J, 2008
DB-ID PINK1_000016 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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.377A>C r.(?) p.(Gln126Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003623 ? ? PINK1 1 Y Yang