Variant #0000616004 (NC_000016.9:g.46695741T>G, VPS35(NM_018206.4):c.2100A>C)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.46695741T>G
DNA change (hg38) g.46661829T>G
Published as VPS35(NM_018206.5):c.2100A>C (p.L700=)
ISCN -
DB-ID VPS35_000015
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS35 NM_018206.4 -?/. - c.2100A>C r.(?) p.(Leu700=)