Genomic variant #0000038949

Individual ID 00018499
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.76781983_76781986del
DNA change (hg38) g.75022225_75022228del
Published as -
ISCN -
DB-ID KAT6B_000033
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 +?/. 17 c.3366_3369del - r.(?) p.(Lys1124Glyfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018483 DNA SEQ - - KAT6B 1 Jill Clayton-Smith