Genomic variant #0000281703

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.76788659_76788660insAAGAGGAAG
DNA change (hg38) -
Published as KAT6B:c.4097_4105dupAAGAGGAAG (E1366_E1368dup)
ISCN -
DB-ID KAT6B_000067
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_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -/. - c.3528_3529insAAGAGGAAG benign r.(?) p.(Glu1176_Glu1177insLysArgLys)
KAT6B NM_001256469.1 -/. - c.3201_3202insAAGAGGAAG benign r.(?) p.(Glu1067_Glu1068insLysArgLys)
KAT6B NM_012330.3 -/. - c.4077_4078insAAGAGGAAG benign r.(?) p.(Glu1359_Glu1360insLysArgLys)