Variant #0000646548 (NC_000015.9:g.91560188C>T, VPS33B(NM_018668.3):c.239+5G>A)

Individual ID 00000057
Chromosome 15
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.91560188C>T
DNA change (hg38) g.91016958C>T
Published as -
ISCN -
DB-ID VPS33B_000216
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Paul Gissen
Database submission license No license selected
Created by Paul Gissen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS33B NM_018668.3 -?/-? 3i c.239+5G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000057 DNA SEQ-NG - - ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1 16 Global Variome, with Curator vacancy