Genomic variant #0000558232

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46696317A>C
DNA change (hg38) -
Published as VPS35(NM_018206.5):c.1905T>G (p.F635L)
ISCN -
DB-ID VPS35_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VPS35 NM_018206.4 -?/. - c.1905T>G likely benign r.(?) p.(Phe635Leu)