Genomic variant #0000321626

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788656_76788661del
DNA change (hg38) -
Published as KAT6B(NM_012330.3):c.4074_4079delGGAGGA (p.E1367_E1368del)
ISCN -
DB-ID KAT6B_000066
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) Variant not found in online data sets
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 ?/. - c.3525_3530del VUS r.(?) p.(Glu1184_Glu1185del)
KAT6B NM_001256469.1 ?/. - c.3198_3203del VUS r.(?) p.(Glu1075_Glu1076del)
KAT6B NM_012330.3 ?/. - c.4074_4079del VUS r.(?) p.(Glu1367_Glu1368del)