Variant #0000086616 (NC_000006.11:g.157521944_157521945insTGCTGCTGCTCCTACTCGG, ARID1B(NM_020732.3):c.4216_4217insTGCTGCTGCTCCTACTCGG)

Individual ID 00056418
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.157521944_157521945insTGCTGCTGCTCCTACTCGG
DNA change (hg38) g.157200810_157200811insTGCTGCTGCTCCTACTCGG
Published as -
ISCN -
DB-ID ARID1B_000072
Variant remarks -
Reference PubMed: Wieczorek 2013
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Eline van der Sluijs
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Eline van der Sluijs
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARID1B NM_020732.3 +/. 18 c.4216_4217insTGCTGCTGCTCCTACTCGG r.(?) p.(Gln1406Leufs*59)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056377 DNA SEQ - - ARID1B 1 Eline van der Sluijs