Genomic variant #0000038947

Individual ID 00018497
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.76789310_76789311del
DNA change (hg38) g.75029552_75029553del
Published as -
ISCN -
DB-ID KAT6B_000041
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.4728_4729del - r.(?) p.(Arg1577Cysfs*21)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018481 DNA SEQ - - KAT6B 1 Jill Clayton-Smith