Genomic variant #0000281700

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.76781848_76781859del
DNA change (hg38) -
Published as KAT6B(NM_012330.3):c.3231_3242delCGAGGAGGAGGA (p.D1077_E1080del)
ISCN -
DB-ID KAT6B_000060 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
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.2682_2693del likely benign r.(?) p.(Asp894_Glu897del)
KAT6B NM_001256469.1 -?/. - c.2355_2366del likely benign r.(?) p.(Asp785_Glu788del)
KAT6B NM_012330.3 -?/. - c.3231_3242del likely benign r.(?) p.(Asp1077_Glu1080del)