Variant #0000959346 (NC_000008.10:g.100050635T>A, NC_000008.10(NM_152564.4):c.148-16T>A (VPS13B))

Individual ID 00447568
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.100050635T>A
DNA change (hg38) g.99038407T>A
Published as -
ISCN -
DB-ID VPS13B_000432
Variant remarks ACMG PM2, BP7
Reference PubMed: Weisschuh 2024
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-01-26 10:23:59 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS13B NM_152564.4 ?/. - c.148-16T>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000449145 DNA SEQ-NG - WGS - 4 Johan den Dunnen


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