Variant #0000003556 (NC_000006.11:g.162206852G>A, PARK2(NM_004562.2):c.823C>T)

Individual ID 00003556
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162206852G>A
Reference 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
DB-ID PARK2_000108 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00191 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PARK2 NM_004562.2 ./. 7 c.823C>T r.(?) p.(Arg275Trp) 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     
0000003556 ? ? PARK2 1 Y Yang