Genomic variant #0000344538

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788544_76788545del
DNA change (hg38) -
Published as KAT6B:NM_012330.2:c.3962_3963del (Gln1321fs)
ISCN -
DB-ID KAT6B_000036 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_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 +/. - c.3413_3414del pathogenic r.(?) p.(Gln1138Argfs*20)
KAT6B NM_001256469.1 +/. - c.3086_3087del pathogenic r.(?) p.(Gln1029Argfs*20)
KAT6B NM_012330.3 +/. - c.3962_3963del pathogenic r.(?) p.(Gln1321Argfs*20)