Variant #0000646580 (NC_000015.9:g.91555248_91555252del, NC_000015.9(NM_018668.3):c.357+1809_357+1813del (VPS33B))

Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.91555248_91555252del
DNA change (hg38) g.91012018_91012022del
Published as c.357+1782_357+1786del
ISCN -
DB-ID VPS33B_000090
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs58411752
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Paul Gissen
Database submission license No license selected
Created by Paul Gissen
Date created 2011-08-22 11:16:39 +02:00 (CEST)
Date last edited 2021-09-09 14:41:03 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS33B NM_018668.3 ?/? 5i c.357+1809_357+1813del r.(=) p.(=)


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