Variant #0000003561 (NC_000006.11:g.162206827A>G, PARK2(NM_004562.2):c.848T>C)

Individual ID 00003561
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162206827A>G
Reference Macedo MG, 2009
DB-ID PARK2_000113
Frequency -
Average frequency (gnomAD v.2.1.1) 4.0E-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 ./. 7 c.848T>C r.(?) p.(Leu283Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003561 ? ? PARK2 1 Y Yang