Variant #0000695718 (NC_000001.10:g.8021778C>T, PARK7(NM_007262.4):c.-99C>T)

Individual ID 00312639
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.8021778C>T
DNA change (hg38) -
Published as g.18C>T
ISCN -
DB-ID PARK7_000028
Variant remarks -
Reference PubMed: Hague 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.41
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 -/- _1 c.-99C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313811 DNA SEQ - - PARK7 1 The Parkinson's Institute - Birgitt Schuele