Variant #0000695690 (NC_000001.10:g.8022901_8022902delinsA, PARK7(NM_007262.4):c.56_57delinsA)

Individual ID 00312615
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.8022901_8022902delinsA
DNA change (hg38) g.7962841_7962842delinsA
Published as [56delC;57G>A]
ISCN -
DB-ID PARK7_000005
Variant remarks -
Reference PubMed: Hague 2003
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 ?/. 2 c.56_57delinsA r.(?) p.(Thr19Lysfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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