Genomic variant #0000458776

Individual ID 00225447
Chromosome 8
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.145659652dup
DNA change (hg38) -
Published as 3096dupA
ISCN -
DB-ID TONSL_000009
Variant remarks -
Reference Journal: Burrage 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TONSL NM_013432.4 +/. - c.3096dup pathogenic (recessive) r.(?) p.(Gln1033Thrfs*57)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226526 DNA SEQ;SEQ-NG - WES TONSL 2 Johan den Dunnen