Genomic variant #0000347753

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76789184del
DNA change (hg38) -
Published as KAT6B:NM_012330.3:c.4602del (Met1535fs)
ISCN -
DB-ID KAT6B_000095
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.4053del pathogenic r.(?) p.(Met1352Trpfs*14)
KAT6B NM_001256469.1 +/. - c.3726del pathogenic r.(?) p.(Met1243Trpfs*14)
KAT6B NM_012330.3 +/. - c.4602del pathogenic r.(?) p.(Met1535Trpfs*14)