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
Date created 2011-09-25 12:41:52 +02:00 (CEST)
Date last edited N/A
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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