Variant #0000003456 (NC_000006.11:g.162394349G>A, PARK2(NM_004562.2):c.719C>T)

Individual ID 00003456
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162394349G>A
Reference Foroud T, 2003;Periquet M, 2003;Madegowda RH, 2005;Schlitter AM, 2006;Deng H, 2006;Bras J, 2008;Sironi F, 2008;Amboni M, 2009;CamRos ST, 2009;Pankratz N, 2009
DB-ID PARK2_000013
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00038 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 ./. 6 c.719C>T r.(?) p.(Thr240Met) 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     
0000003456 ? ? PARK2 1 Y Yang