Variant #0000696716 (NC_000006.11:g.(162683798_162864341)_(162864506_163148693)del, PARK2(NM_004562.2):c.(7+1_8-1)_(171+1_172-1)del)

Individual ID 00313632
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(162683798_162864341)_(162864506_163148693)del
DNA change (hg38) g.(162262766_162443310)_(162443474_162727662)del
Published as c.8-?_171+?del
ISCN -
DB-ID PARK2_000082 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Silvia García
Database submission license No license selected
Created by Silvia García
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 +/. 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314804 DNA MLPA - - PARK2 1 Silvia García