Variant #0000695716 (NC_000001.10:g.8021930_8022779del, PARK7(NM_007262.4):c.-24+77_-23-44del)
Individual ID |
00312638 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.8021930_8022779del |
DNA change (hg38) |
g.7961870_7962719del |
Published as |
g.168_185del |
ISCN |
- |
DB-ID |
PARK7_000002 |
Variant remarks |
- |
Reference |
PubMed: Hague 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
0.15 (80 subjects) |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
The Parkinson's Institute - Birgitt Schuele |
Database submission license |
No license selected |
Created by |
The Parkinson's Institute - Birgitt Schuele |
Date created |
2008-06-10 07:41:51 +02:00 (CEST) |
Date last edited |
2008-06-23 07:02:23 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|