Genomic variant #0000038968

Individual ID 00018518
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788787_76788788del
DNA change (hg38) g.75029029_75029030del
Published as -
ISCN -
DB-ID KAT6B_000010 See all 5 reported entries
Variant remarks -
Reference PubMed: Clayton-Smith 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.4205_4206del - r.(?) p.(Ser1402Cysfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018502 DNA SEQ - - KAT6B 1 Philippe Campeau