Variant #0000003517 (NC_000006.11:g.162683593_162683632del40, PARK2(NM_004562.2):c.337_376del40)

Individual ID 00003517
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162683593_162683632del40
Reference Farrer M, 2001;Hedrich K, 2002;Nichols WC, 2002;Foroud T, 2003;Chen R, 2003;Scherfler C, 2004;WIy J, 2004;Poorkaj P, 2004;Hedrich K, 2004;Poorkaj P, 2005;Clark LN, 2006;Sun M, 2006;Wang Y, 2008;Brooks J, 2009;Pankratz N, 2009;Sammler EM, 2009
DB-ID PARK2_000071
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
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.337_376del40 r.(?) p.(Pro113Thrfs*51) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003517 ? ? PARK2 1 Y Yang