Variant #0000003513 (NC_000006.11:g.162683724G>T, PARK2(NM_004562.2):c.245C>A)

Individual ID 00003513
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162683724G>T
Reference Hedrich K, 2001;Varrone A, 2004;Kay DM, 2007;Lesage S, 2008;H?kansson A, 2008;Sironi F, 2008;Nuytemans K, 2009;Brooks J, 2009;Pankratz N, 2009
DB-ID PARK2_000067
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00365 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     
PARK2 NM_004562.2 ./. 3 c.245C>A r.(?) p.(Ala82Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003513 ? ? PARK2 1 Y Yang