Variant #0000695709 (NC_000001.10:g.8044953G>C, PARK7(NM_007262.4):c.410-1G>C)

Individual ID 00312615
Chromosome 1
Allele Parent #2
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.8044953G>C
DNA change (hg38) g.7984893G>C
Published as -
ISCN -
DB-ID PARK7_000016
Variant remarks -
Reference PubMed: Hague 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/107
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 2008-06-21 08:45:45 +02:00 (CEST)
Date last edited 2008-06-21 08:48:33 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 +?/+? 6i c.410-1G>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313787 DNA SEQ - - PARK7 2 The Parkinson's Institute - Birgitt Schuele