Genomic variant #0000321627

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788679_76788687dup
DNA change (hg38) -
Published as KAT6B:NM_001256468.1:c.3528_3529insGAAGAGGAA, NM_001256469.1:c.3201_3202insGAAGAGGAA, …
ISCN -
DB-ID KAT6B_000068
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) Variant not found in online data sets
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 ?/. - c.3548_3556dup VUS r.(?) p.(Glu1183_Glu1185dup)
KAT6B NM_001256469.1 ?/. - c.3221_3229dup VUS r.(?) p.(Glu1074_Glu1076dup)
KAT6B NM_012330.3 ?/. - c.4097_4105dup VUS r.(?) p.(Glu1366_Glu1368dup)