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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 ?/. 1i c.-24+77_-23-44del r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313810 DNA SEQ - - PARK7 1 The Parkinson's Institute - Birgitt Schuele