Genomic variant #0000076906

Individual ID 00047963
Chromosome 6
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.157150496_157150506del
DNA change (hg38) g.156829362_156829372del
Published as -
ISCN -
DB-ID ARID1B_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Tsurusaki 2012
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARID1B NM_020732.3 ?/+? 2 c.1678_1688del r.(?) p.(Ile560Glyfs*89)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048089 DNA SEQ - - ARID1B 1 Global Variome, with Curator vacancy