Variant #0000827628 (NC_000008.10:g.100883013G>C, NM_017890.3:c.11468G>C (VPS13B))

Individual ID 00394810
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.100883013G>C
DNA change (hg38) g.99870785G>C
Published as VPS13B c.11468G>C, p.(Gly3823Ala)
ISCN -
DB-ID VPS13B_000422
Variant remarks heterozygous
Reference PubMed: Kim 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-12-02 12:05:39 +01:00 (CET)
Date last edited 2024-09-27 05:12:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VPS13B NM_017890.3 ?/. - c.11468G>C r.(?) p.(Gly3823Ala)
VPS13B NM_152564.4 ?/. - c.11393G>C r.(?) p.(Gly3798Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396057 DNA SEQ-NG - - VPS13B 2 LOVD


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