Genomic variant #0000285462

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788686_76788687insAAGAGGAAG
DNA change (hg38) -
Published as KAT6B:c.4097_4105dupAAGAGGAAG (E1366_E1368dup)
ISCN -
DB-ID KAT6B_000070
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_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -?/. - c.3555_3556insAAGAGGAAG likely benign r.(?) p.(Glu1185_Gly1186insLysArgLys)
KAT6B NM_001256469.1 -?/. - c.3228_3229insAAGAGGAAG likely benign r.(?) p.(Glu1076_Gly1077insLysArgLys)
KAT6B NM_012330.3 -?/. - c.4104_4105insAAGAGGAAG likely benign r.(?) p.(Glu1368_Gly1369insLysArgLys)