Variant #0000695714 (NC_000001.10:g.8045045A>G, PARK7(NM_007262.4):c.501A>G)

Individual ID 00312636
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.8045045A>G
DNA change (hg38) g.7984985A>G
Published as -
ISCN -
DB-ID PARK7_000020 See all 3 reported entries
Variant remarks -
Reference PubMed: Pankratz 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00129 View details
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 08:11:42 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 ?/. 7 c.501A>G r.(?) p.(Ala167=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313808 DNA SEQ - - PARK7 1 The Parkinson's Institute - Birgitt Schuele