Genomic variant #0000281702

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788660_76788668del
DNA change (hg38) -
Published as KAT6B:c.4097_4105delAAGAGGAAG (E1366_E1368del)
ISCN -
DB-ID KAT6B_000069
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01382 View details
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -/. - c.3529_3537del benign r.(?) p.(Glu1183_Glu1185del)
KAT6B NM_001256469.1 -/. - c.3202_3210del benign r.(?) p.(Glu1074_Glu1076del)
KAT6B NM_012330.3 -/. - c.4078_4086del benign r.(?) p.(Glu1366_Glu1368del)