Genomic variant #0000076816

Individual ID 00047891
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.27059211del
DNA change (hg38) g.26732720del
Published as -
ISCN -
DB-ID ARID1A_000012
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sian Jones
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARID1A NM_006015.4 ?/? 4 c.1848del r.(?) p.(Ser617Glnfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048017 DNA SEQ - - ARID1A 2 Sian Jones