Variant #0000368960 (NC_000006.11:g.162837522_162925283del, PARK2(NM_004562.2):c.8-60777_171+26821del)

Individual ID 00164434
Chromosome 6
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.162837522_162925283del
DNA change (hg38) g.162416490_162504251del
Published as NG_008289.2:g.228553_316314del
ISCN -
DB-ID PARK2_000178
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency One sibling
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Coro Paisan-Ruiz
Database submission license No license selected
Created by Coro Paisan-Ruiz
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 +?/. - c.8-60777_171+26821del r.? p.(Val3Glufs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165301 DNA SEQ-NG-I Whole blood - - 2 Coro Paisan-Ruiz