Variant #0000016353 (NC_000008.10:g.100654480dup, VPS13B(NM_017890.3):c.5737dupA)

Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100654480dup
DNA change (hg38) g.99642252dup
Published as c.5730_5731insA: p.Ile1913fsX6
ISCN -
DB-ID VPS13B_000071
Variant remarks 1 Finnish COH1 patient (com-het)
Reference PubMed: Kolehmainen et al. 2004
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anne Polvi
Database submission license No license selected
Created by Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS13B NM_017890.3 +/+ 37 c.5737dupA r.5737dupa p.Ile1913Asnfs*7