Genomic variant #0000290004

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76780942T>C
DNA change (hg38) -
Published as KAT6B:c.2920T>C (C974R)
ISCN -
DB-ID KAT6B_000059
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) 8.0E-5 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 ?/. - c.2371T>C VUS r.(?) p.(Cys791Arg)
KAT6B NM_001256469.1 ?/. - c.2044T>C VUS r.(?) p.(Cys682Arg)
KAT6B NM_012330.3 ?/. - c.2920T>C VUS r.(?) p.(Cys974Arg)