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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 +?/+? 4i_7_ c.(252+1_253-1)_*228{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313795 DNA SEQ;PCR;DHPLC - - PARK7 1 The Parkinson's Institute - Birgitt Schuele