Variant #0000003515 (NC_000006.11:g.162683748_162683749insAC, PARK2(NM_004562.2):c.220_221insGT)

Individual ID 00003515
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162683748_162683749insAC
Reference Abbas N, 1999;Pineda-Trujillo N, 2001
DB-ID PARK2_000069
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
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     
PARK2 NM_004562.2 ./. 3 c.220_221insGT r.(?) p.(Trp74Cysfs*8) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003515 ? ? PARK2 1 Y Yang