Full data view for gene PARK2

Information The variants shown are described using the NM_004562.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 7 c.823C>T r.(?) p.(Arg275Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.162206852G>A Abbas N, 1999;Pramstaller PP, 2002;Hedrich K, 2002;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Rawal N, 2003;Periquet M, 2003;Scherfler C, 2004;WIy J, 2004;Hedrich K, 2004;Arias Vásquez A, 2004;Klein C, 2005;Sinha R, 2005;Clark LN, 2006 PARK2_000108 - ? ? PD - - - 1 Y Yang
./. 7 c.823C>T r.(?) p.(Arg275Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.162206852G>A Ruffmann C1, Zini M, Goldwurm S, Bramerio M, Spinello S, Rusconi D, Gambacorta M, Tagliavini F, Pezzoli G, Giaccone G.(2012) PARK2_000108 - ? ? PD Ruffmann C1, Zini M, Goldwurm S, Bramerio M, Spinello S, Rusconi D, Gambacorta M, Tagliavini F, Pezzoli G, Giaccone G.(2012) - - 1 Y Yang
./. 7 c.823C>T r.(?) p.(Arg275Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.162206852G>A Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014) PARK2_000108 - ? ? PD Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014) Xinjiang, China - 1 Y Yang
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