Genomic variant #0000038961

Individual ID 00018511
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.76788656_76788661del
DNA change (hg38) g.75028898_75028903del
Published as -
ISCN -
DB-ID KAT6B_000037
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
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 +?/. 18 c.4074_4079del - r.(?) p.(Glu1367_Glu1368del)



Screenings

Stop! No screenings found!