Genomic variant #0000349641

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76744953del
DNA change (hg38) -
Published as KAT6B:NM_012330.3:c.2489del (Thr830fs)
ISCN -
DB-ID KAT6B_000084
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_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 +/. - c.1940del pathogenic r.(?) p.(Thr647Lysfs*29)
KAT6B NM_001256469.1 +/. - c.1613del pathogenic r.(?) p.(Thr538Lysfs*29)
KAT6B NM_012330.3 +/. - c.2489del pathogenic r.(?) p.(Thr830Lysfs*29)