Variant #0000003504 (NC_000006.11:g.162864411_162864412delCT, PARK2(NM_004562.2):c.101_102delAG)

Individual ID 00003504
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864411_162864412delCT
Reference Abbas N, 1999;Hedrich K, 2002;Foroud T, 2003;Gouider-Khouja N, 2003;Illarioshkin SN, 2003;Scherfler C, 2004;Romito LM, 2005;Lesage S, 2008;Guo JF, 2008;Lohmann E, 2009;Brooks J, 2009;Brüggemann N, 2009;Koziorowski D, 2009;Pankratz N, 2009;Guo JF, 2010
DB-ID PARK2_000058
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 ./. 2 c.101_102delAG r.(?) p.(Gln34Argfs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003504 ? ? PARK2 1 Y Yang