Variant #0000695705 (NC_000001.10:g.8031025_8031035del, PARK7(NM_007262.4):c.322+2_322+12del)

Individual ID 00312630
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.8031025_8031035del
DNA change (hg38) -
Published as 322+2-12del
ISCN -
DB-ID PARK7_000014
Variant remarks -
Reference PubMed: Hedrich 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/100 EOPD
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner The Parkinson's Institute - Birgitt Schuele
Database submission license No license selected
Created by The Parkinson's Institute - Birgitt Schuele
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 +/+ 5i c.322+2_322+12del r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313802 DNA SEQ;PCR;DHPLC - - PARK7 1 The Parkinson's Institute - Birgitt Schuele