Genomic variant #0000281701

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.76781906_76781908del
DNA change (hg38) -
Published as KAT6B:c.3310_3312delGAA (E1104del)
ISCN -
DB-ID KAT6B_000061 See all 2 reported entries
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.2740_2742del benign r.(?) p.(Glu921del)
KAT6B NM_001256469.1 -/. - c.2413_2415del benign r.(?) p.(Glu812del)
KAT6B NM_012330.3 -/. - c.3289_3291del benign r.(?) p.(Glu1104del)