Genomic variant #0000343359

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76741660C>T
DNA change (hg38) -
Published as KAT6B:NM_012330.3:c.2347C>T (Arg783*)
ISCN -
DB-ID KAT6B_000083
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.1798C>T pathogenic r.(?) p.(Arg600*)
KAT6B NM_001256469.1 +/. - c.1471C>T pathogenic r.(?) p.(Arg491*)
KAT6B NM_012330.3 +/. - c.2347C>T pathogenic r.(?) p.(Arg783*)