Genomic variant #0000249460

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76735377A>C
DNA change (hg38) -
Published as KAT6B(NM_012330.3):c.1282A>C (p.N428H)
ISCN -
DB-ID KAT6B_000055
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -?/. - c.1282A>C likely benign r.(?) p.(Asn428His)
KAT6B NM_001256469.1 -?/. - c.1117+165A>C likely benign r.(=) p.(=)
KAT6B NM_012330.3 -?/. - c.1282A>C likely benign r.(?) p.(Asn428His)