Variant #0000695715 (NC_000001.10:g.8045055G>T, PARK7(NM_007262.4):c.511G>T)
Individual ID |
00312637 |
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.8045055G>T |
DNA change (hg38) |
- |
Published as |
510G>T |
ISCN |
- |
DB-ID |
PARK7_000026 |
Variant remarks |
- |
Reference |
PubMed: Clark 2004 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/202 controls |
Re-site |
- |
VIP |
- |
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 |
Date created |
2008-06-13 20:24:49 +02:00 (CEST) |
Date last edited |
2008-06-21 08:01:14 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|