Variant #0000696558 (NC_000006.11:g.162864412del, PARK2(NM_004562.2):c.101del)

Individual ID 00313479
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864412del
DNA change (hg38) g.162443380del
Published as 101delA
ISCN -
DB-ID PARK2_000008 See all 2 reported entries
Variant remarks -
Reference PubMed: Nisipeanu 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner The Parkinson's Institute - Birgitt Schuele
Database submission license No license selected
Created by The Parkinson's Institute - Birgitt Schuele
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 +/+ 2 c.101del r.(?) p.(Gln34Argfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314651 DNA SEQ - - PARK2 1 The Parkinson's Institute - Birgitt Schuele