Variant #0000003507 (NC_000006.11:g.162864412delT, PARK2(NM_004562.2):c.101delA)

Individual ID 00003507
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864412delT
Reference Nisipeanu P, 2001;Inzelberg R, 2003;Moro E, 2008
DB-ID PARK2_000061
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
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 ./. 2 c.101delA r.(?) p.(Gln34Argfs*10) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003507 ? ? PARK2 1 Y Yang