Variant #0000695698 (NC_000001.10:g.(8029465_8030953)_(8045342_?)del, PARK7(NM_007262.4):c.(252+1_253-1)_*228{0})
Individual ID |
00312623 |
Chromosome |
1 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(8029465_8030953)_(8045342_?)del |
DNA change (hg38) |
- |
Published as |
253-?_(*225_?)del |
ISCN |
- |
DB-ID |
PARK7_000022 |
Variant remarks |
- |
Reference |
PubMed: Hedrich 2004 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/100 EOPD |
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 |
2020-10-02 16:01:31 +02:00 (CEST) |

Variant on transcripts
Screenings
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