Genomic variant #0000313692

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46696284G>A
DNA change (hg38) -
Published as VPS35(NM_018206.4):c.1938C>T (p.=)
ISCN -
DB-ID VPS35_000003 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.97117 View details
Owner VKGL-NL_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VPS35 NM_018206.4 -/. - c.1938C>T benign r.(?) p.(=)