Variant #0000003497 (NC_000006.11:g.162622239G>C, PARK2(NM_004562.2):c.458C>G)

Individual ID 00003497
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162622239G>C
Reference Wang Y, 2008;Okubadejo N, 2008;CamRos ST, 2009
DB-ID PARK2_000051
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00131 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     
PARK2 NM_004562.2 ./. 4 c.458C>G r.(?) p.(Pro153Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003497 ? ? PARK2 1 Y Yang