Variant #0000695692 (NC_000001.10:g.8025408G>T, PARK7(NM_007262.4):c.115G>T)

Individual ID 00312617
Chromosome 1
Allele Paternal (inferred)
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.8025408G>T
DNA change (hg38) g.7965348G>T
Published as -
ISCN -
DB-ID PARK7_000025
Variant remarks combined with PINK1:P399L
Reference PubMed: Tang 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 +?/+? 3 c.115G>T r.(?) p.(Ala39Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313789 DNA SEQ - - PARK7 1 The Parkinson's Institute - Birgitt Schuele