Variant #0000003514 (NC_000006.11:g.162683722T>C, PARK2(NM_004562.2):c.247A>G)

Individual ID 00003514
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162683722T>C
Reference Pankratz N, 2009
DB-ID PARK2_000068
Frequency -
Average frequency (gnomAD v.2.1.1) 9.0E-5 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 ./. 3 c.247A>G r.(?) p.(Thr83Ala) 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     
0000003514 ? ? PARK2 1 Y Yang