Genomic variant #0000038952

Individual ID 00018502
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76781681G>T
DNA change (hg38) g.75021923G>T
Published as -
ISCN -
DB-ID KAT6B_000032
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jill Clayton-Smith




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_012330.3 +?/. 16 c.3064G>T - r.(?) p.(Glu1022*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018486 DNA SEQ - - KAT6B 1 Jill Clayton-Smith