Variant #0000076884 (NC_000001.10:g.27023502dup, ARID1A(NM_006015.4):c.608dup)

Individual ID 00047925
Chromosome 1
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.27023502dup
DNA change (hg38) g.26697011dup
Published as Chr1.hg18:g.26896089dupA
ISCN -
DB-ID ARID1A_000074
Variant remarks -
Reference PubMed: Jones 2010
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sian Jones
Database submission license No license selected
Created by Sian Jones
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARID1A NM_006015.4 ?/? 1 c.608dup r.(?) p.(His203Glnfs*197)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048051 DNA SEQ - - ARID1A 2 Sian Jones