Variant #0000558231 (NC_000016.9:g.46694553T>G, VPS35(NM_018206.4):c.2222A>C)

Chromosome 16
Allele Unknown
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.46694553T>G
DNA change (hg38) g.46660641T>G
Published as VPS35(NM_018206.5):c.2222A>C (p.Q741P)
ISCN -
DB-ID VPS35_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS35 NM_018206.4 ?/. - c.2222A>C r.(?) p.(Gln741Pro)