Variant #0000695599 (NC_000016.9:g.46696364C>T, VPS35(NM_018206.4):c.1858G>A)

Individual ID 00312527
Chromosome 16
Allele Paternal (confirmed)
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.46696364C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID VPS35_000001
Variant remarks -
Reference PubMed: Kumar 2012
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     
VPS35 NM_018206.4 +?/+? 15 c.1858G>A r.(?) p.(Asp620Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313699 DNA SEQ - - VPS35 1 The Parkinson's Institute - Birgitt Schuele