Genomic variant #0000321623

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.76784992G>T
DNA change (hg38) -
Published as KAT6B:NM_001256468.1:c.3100G>T, NM_001256469.1:c.2773G>T, …
ISCN -
DB-ID KAT6B_000064
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) 0.00823 View details
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -?/. - c.3100G>T likely benign r.(?) p.(Ala1034Ser)
KAT6B NM_001256469.1 -?/. - c.2773G>T likely benign r.(?) p.(Ala925Ser)
KAT6B NM_012330.3 -?/. - c.3649G>T likely benign r.(?) p.(Ala1217Ser)