Variant #0000695720 (NC_000001.10:g.8045233_8045234insA, PARK7(NM_007262.4):c.*119_*120insA)

Individual ID 00312641
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.8045233_8045234insA
DNA change (hg38) -
Published as *120InsA
ISCN -
DB-ID PARK7_000023
Variant remarks -
Reference PubMed: Abou-Sleiman 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/380 chromosomes
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 2020-10-02 16:03:32 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 ?/. 7 c.*119_*120insA r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313813 DNA SEQ - - PARK7 1 The Parkinson's Institute - Birgitt Schuele