Variant #0000003474 (NC_000006.11:g.162394435T>A, PARK2(NM_004562.2):c.633A>T)

Individual ID 00003474
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162394435T>A
Reference van de Warrenburg BP, 2001;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Klein C, 2005;Hertz JM, 2006;Aguiar P de C, 2008;Barsottini OG, 2009;Pankratz N, 2009
DB-ID PARK2_000030
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 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.633A>T r.(?) p.(Lys211Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003474 ? ? PARK2 1 Y Yang