Genomic variant #0000038990

Individual ID 00018540
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788351_76788354del
DNA change (hg38) g.75028593_75028596del
Published as c.3769_3772delTCTA
ISCN -
DB-ID KAT6B_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Campeau et al.
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_012330.3 +/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018524 DNA SEQ - - KAT6B 1 Philippe Campeau