Variant #0000018693 (NC_000006.11:g.157527669_157527672del, ARID1B(NM_020732.3):c.5394_5397del)

Individual ID 00001550
Chromosome 6
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.157527669_157527672del
DNA change (hg38) g.157206535_157206538del
Published as -
ISCN -
DB-ID ARID1B_000043 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gijs Santen
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARID1B NM_020732.3 ?/? - c.5394_5397del r.(?) p.(Phe1798Leufs*52)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001321 DNA SEQ - - ARID1B 1 Gijs Santen