Genomic variant #0000076906

Individual ID 00047963
Chromosome 6
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
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 LOVD-team, but with Curator vacancy




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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 LOVD-team, but with Curator vacancy