Genomic variant #0000350305

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76789077G>A
DNA change (hg38) -
Published as KAT6B(NM_012330.2):c.4495G>A (p.Val1499Ile)
ISCN -
DB-ID KAT6B_000094 See all 2 reported entries
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) 0.0246 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -/. - c.3946G>A benign r.(?) p.(Val1316Ile)
KAT6B NM_001256469.1 -/. - c.3619G>A benign r.(?) p.(Val1207Ile)
KAT6B NM_012330.3 -/. - c.4495G>A benign r.(?) p.(Val1499Ile)